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.
Reactive oxygen species (ROS) are produced as a result of biochemical processes that are not in balance with the body's antioxidant defense mechanism. This metabolic dysfunction is referred to the oxidative stress (OS). Metabolic dysfunction-associated diseases are affected by changes in the redox balance. It is now widely recognized that oxidative stress significantly affects diabetes mellitus (DM), particularly type 2 diabetes. The biochemical changes associated with DM could disturb the oxidative milieu, leading to several microvascular complications in diabetic patients. Thus, DM is a perfect disease to explore the harmful consequences of oxidative stress and how to treat it. Oxidative stress triggered by hyperglycemia is
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Secondary trigeminal neuralgia (STN) results from an identifiable underlying pathology, including tumor compression, multiple sclerosis, arteriovenous malformations, hypertension, structural lesions, inflammation, trauma, or familial genetic conditions. This study, through a comprehensive review of the literature in PubMed, Google Scholar, Web of Science, and the Cochrane Library, explores the multifaceted aspects of STN. This study delves into the diverse etiological factors, focusing on the pathophysiological mechanisms that lead to trigeminal nerve dysfunction. The clinical manifestations of STN often overlap with those of primary trigeminal neuralgia, creating diagnostic challenges and necessitating a thorough evaluation that in
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Amygdalin (d-Mandelonitrile 6-O-β-d-glucosido-β-d-glucoside) and its semi synthetic product is Laetrile ( also called vitamin B17): a natural cyanogenic glycoside occurring in the seeds of some edible plants, such as bitter almonds and peaches. Early in the 19th century, Amygdalin was first isolated in 1830 by two French chemists, Robiquet and Boutron-Charlard, as active components in various fruit pits and raw nuts. However, the systematized study of vitamin B17 started when chemist Bohn (1802) discovered that a hydrocyanic acid is released during distillation of the water from bitter almonds. The various pharmacological effects of Laetrile include antiatherogenic, activity in renal fibrosis, pulmonary fibrosis, immune regulation, ant
... Show MoreBackground: Metabolic syndrome MS a cluster of disorders comprising obesity (central and abdominal), dyslipidaemias, glucose intolerance, insulin resistance (or hyperinsulinaemia) and hypertension – is highly predictive of type 2 diabetes mellitus and cardiovascular disease. It should be emphasized that the metabolic syndrome is a syndrome and not a disease. The aim of this study is to evaluate the levels of serum phosphate in different levels in subjects with metabolic syndrome MS and Correlation between serum phosphate levels with metabolic syndrome components. The study was carried out at the National diabetes Center (NDC) /AL-Mustansiryia University ,the period from (Desmber.2011 – May 2012) One hundred forty (140) Iraqi indivi
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Teresa Fitzpatrick presents a connection between oppressed women and the plant of Wisteria in gothic fiction in her article “Wisteria: A Female Eco-Gothic Metaphor in American Fiction Through the Ages.” The connection between women and nature is common in literature as women are usually compared to the beauty or ferocity of flowers, rivers, or natural phenomena in general. The connection extends to the architecture and sort of plants that appear in gothic literature. Gothic novels have routinely been connected to the secrets and life stories of women who cannot have the liberty to live or share them outside their homes. A fearful house with a prisoned person, ghost, or a secret is mostly normally found in gothic writing. Women have exce
... Show MoreThe emergence of such widespread pharmaceuticals as a pollutant has become one of the world's critical environmental problems that may lead to both the public's health and biodiversity deterioration. This article provides an exhaustive account of the current understanding of the environmental persistence of pharmaceutical contaminants following in-depth analysis of the additive effects of existing natural biodegradation pathways on the human health impact of these drugs. Paying special attention to biodegradation decomposing agents such as bacteria, fungi, and algae the paper estimates their ability to convert drug ingredients to compound that is eventually less toxic. Although these biologic systems contain an enormous potential fo
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Background: The styloid process is a cylindrical bone (protrusion). It situated above the common carotid artery between the external and internal branches immediately proximal to the internal jugular vein and facial nerves. The styloid process varies in length also it may be absent as well as elongated. Classically, an elongated styloid process and calcified of stylohyoid ligament causes Eagle’s syndrome. The aim of this study was to examine the styloid process using 3 dimensional multi-detector computed tomography (3D-MDCT) to detect the presence of Eagle’s syndrome that causes severe headache and migraine. Materials and methods: One hundred patients with severe headache and migraine were exposed to 3D- multi-detector CT with special
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