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.
Colorectal cancer (CRC) remains a leading cause of cancer-related deaths worldwide, with tumor angiogenesis playing a pivotal role in its progression and metastasis. CD144 (VE-cadherin), a calcium-dependent adhesion molecule, is critical for endothelial cell integrity and has been linked to tumor angiogenesis and cancer stem cell phenotypes. This study aimed to evaluate the immunohistochemical expression of CD144 in benign colorectal lesions, normal adjacent tumor tissue (NRAT), and tumor tissues to elucidate its role in colorectal cancer progression. Multiple techniques, including immunohistochemistry, flow cytometry, Western blot, and qPCR, were used to assess CD144 expression and its association with the VEGF/VEGFR2 signaling pat
... Show More
The term "nano gold," also known as "gold nanoparticles," is commonly used. These particles are extremely small, with a diameter of less than 100 nm, which is only a fraction of the width of a human hair. Due to their tiny size, nano gold particles are often found in a colloidal solution, where they are suspended in a liquid stabilizer. This colloidal gold is essentially another name for nano gold. The main method for producing gold nanoparticles in a colloidal solution is the citrate synthesis technique, which involves combining different solutions to precipitate the gold nanoparticles. In biological systems, copper complexes play a significant role at the active sites of many metalloproteins. These complexes have potential applications in
... Show MoreThe liver is one of the largest glands in the digestive system and performs 13 various functions, including the secretion of hormones and enzymes. The gallbladder serves as a storage reservoir for secretions before they are released into the digestive system through the duodenum. The bile ducts branch from the liver’s lobes and ultimately connect to the digestive system, making this structure significant and distinct among different animal species. This review focuses on the differences between dogs and cats, highlighting the importance of these differences from both health and pathological perspectives. After conducting a detailed scientific review of the biliary tree in dogs and cats, we concluded that cats are more susceptible to the d
... Show MoreThe liver is one of the largest glands in the digestive system and performs 13 various functions, including the secretion of hormones and enzymes. The gallbladder serves as a storage reservoir for secretions before they are released into the digestive system through the duodenum. The bile ducts branch from the liver’s lobes and ultimately connect to the digestive system, making this structure significant and distinct among different animal species. This review focuses on the differences between dogs and cats, highlighting the importance of these differences from both health and pathological perspectives. After conducting a detailed scientific review of the biliary tree in dogs and cats, we concluded that cats are more susceptible
... Show MoreSchizophrenia (ZP) is a common devastating cognitive disorder; however, the etiology of its incidence remains largely unclear yet. Although some evidence blames both environ ment and genetic factor as main drivers of ZP, but the clear mechanism of their effect elusive till now. Of interest, severe anemia conditions can lead to hypoxia in CNS which disturbs the normal structures and functions of some area in the brain resulting in abnormalities in the neurons communications and decrease synaptic plasticity. Additionally, modulation of cytoskeleton constituents is thought to participate to ZP development. Recently, it has been revealed that iron deficiency, which is the main cause of anemia, has a significant impact on the cytoskeleton
... Show MoreEndometriosis is an estrogen dependent inflammatory disorder plays a pivotal role in the reproductive system of the females which regarded as one of the most important gynecological disorders due to it is a key cause of infertility for women and also it has a remarkable impact on the women's life quality. Indeed, environmental pollution have an extremely importance in the etiology of endometriosis. Hence, the present article submits an abbreviated literature review to the biochemical role of environmental pollutants in the etiology and development of endometriosis. Anyway, this review article represented the major environmental pollutants: the organic pollutants of air, heavy metals, gaseous pollutants and the particulate matter. Th
... Show More
(3)
(4)
Numerous trace elements, notably metals, are essential for the normal functioning of several biological reactions, especially as enzyme cofactors. Several Trace elements refer to essential micronutrients required in minimal quantities for certain biological functions pertaining to human metabolism, albeit their minimal concentrations in the organism. Nonetheless, our understanding of this topic is considerably restricted, and emerging insights into their metabolic functions necessitate contributions and have implications across various domains, encompassing nutritional chemistry, with a focus on analytical chemistry, biological sciences, medicine, pharmacology, and agricultural sciences.
Numerous trace elements, notably metals, are essential for the normal functioning of several biological reactions, especially as enzyme cofactors. Several Trace elements refer to essential micronutrients required in minimal quantities for certain biological functions pertaining to human metabolism, albeit their minimal concentrations in the organism. Nonetheless, our understanding of this topic is considerably restricted, and emerging insights into their metabolic functions necessitate contributions and have implications across various domains, encompassing nutritional chemistry, with a focus on analytical chemistry, biological sciences, medicine, pharmacology, and agricultural sciences.