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.
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. 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
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Hydatid 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
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This 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
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Background: Multiple sclerosis (MS) is an inflammatory disease of the central nervous system, in which the myelin sheaths got injured. The prevalence of MS is on grow, as well as, it affects the young ages. Females are most common to have MS compared to males. Oxidative stress is the situation of imbalance between oxidants (free radicals and reactive oxygen species (ROS)) and antioxidants in a living system, in which either the oxidants are elevated or antioxidants are reduced, or sometimes both. ROS and oxidative stress have been implicated in the progression of many degenerative diseases, which is important in cracking the unrevealed mysteries of MS. In this review article, some of the proposed mechanisms that link oxidative stres
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Osteoarthritis is a degenerative disease affecting joints that is chronic and disables the movement of patients with increasing pain and decreasing their quality of life with age. Available treatments are only symptomatic with no cure. Recent methods for managing osteoarthritis involve using pharmacological, non-pharmacological treatments or both for improving physical function in patients and alleviating pain. Clinical trials were conducted to reveal the extent of benefits obtained from different nutraceuticals and food supplements, such as collagen with growing use and fairly good results in the treatment of osteoarthritis. The goal of this study is to review the current information about the rational use of collagen in osteoarthritisKeyw
... Show MoreThe research undertaken has provided a comprehensive insight into the practice of cupping therapy, a traditional treatment modality that has seen resurgence in. modern complementary medicine. This exploration, focusing on a spectrum of. Conditions such as migraines, lower back pain, neck pain, knee osteoarthritis, and chronic urticaria, highlights the potential benefits and the necessity for a deeper. Scientific understanding of cupping therapy. Cupping therapy, with its roots deeply embedded in ancient medical practices, offers a unique approach to treatment by promoting healing through increased blood flow and the release of toxins from the body. The application of this therapy in treating migraines has shown promising results, su
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The research undertaken has provided a comprehensive insight into the practice of cupping therapy, a traditional treatment modality that has seen resurgence in. modern complementary medicine. This exploration, focusing on a spectrum of. Conditions such as migraines, lower back pain, neck pain, knee osteoarthritis, and chronic urticaria, highlights the potential benefits and the necessity for a deeper. Scientific understanding of cupping therapy. Cupping therapy, with its roots deeply embedded in ancient medical practices, offers a unique approach to treatment by promoting healing through increased blood flow and the release of toxins from the body. The application of this therapy in treating migraines has shown promising results, su
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Over the past ten years, tumor markers have played an increasingly important role in clinicaloncology. This trend is expected to continue as technology advances and our knowledge of thehuman body and disease processes grows. In the treatment of cancer, tumor markers are widelyused for a variety of purposes, including screening, selecting a management strategy,determining the prognosis, and post-therapy follow-up. A comprehensive of the fundamentalsof pathophysiology and identification strategies for each specific malignancy is necessary fortheir prudent application in clinical practice. Oncology's use of cancer biomarkers hastransformed the way that cancer is treated, and led to notable improvements in patient outcomesand cancer tre
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