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 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 MoreBackground: Polycystic ovary syndrome (PCOS) is
the most common form of chronic anovulation
associated with androgen excess; it occurs in about 5
– 10% 0f reproductive age women. Metabolic
syndrome is characterized by insulin resistance,
hypertension, obesity, abnormalities of blood clotting
and dyslipidemia.
Adult women with PCOS have an increased
prevalence of the metabolic syndrome(MBS).
Objectives: To detect the prevalence of metabolic
syndrome in women with proved PCOS, attending the
Specialized Center for Endocrinology and Diabetes, in
Baghdad.
Materials and methods : A total number of 40
women with proved PCOS were included in this study
which was conducted in the Specialized Center f
The 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 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
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The rising prevalence of obesity-related glomerulopathy (ORG) occurs in accordance with the rising prevalence of obesity worldwide. Clinically ORG is manifested by slowly progressing microalbuminuria that may develop to clinically evident proteinuria. Pathological characteristics of ORG include glomerular hypertrophy in the presence or absence of focal segmental glomerulosclerosis (FSGS). ORG can develop into clinically overt chronic renal insufficiency or even end-stage kidney disease. This article reviews the most important mechanisms for the development of ORG; that are abnormal renal hemodynamics, stimulation of renin-angiotensin-aldosterone system (RAAS), impairment of insulin sensetivity, ectopic lipid deposition, adipose tissue cy
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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.
Various industrial applications include the dyeing of textiles, paper, leather, and food products, as well as the cosmetics industry. Physic-chemical methods are required to breakdown dyes because they are known to be harmful and persistent in the environment. Many companies' treated effluents contain small amounts of dyes. When it comes to removing dye from wastewater, adsorption has verified to be aneconomical alternative to more traditional treatment procedures. It's important to degrade color impurities in industrial effluents since they constitute a serious health and environmental concern. One way that's been tried is using clay minerals as an adsorbent. Using adsorption for removing
... Show MoreIn this study, dynamic encryption techniques are explored as an image cipher method to generate S-boxes similar to AES S-boxes with the help of a private key belonging to the user and enable images to be encrypted or decrypted using S-boxes. This study consists of two stages: the dynamic generation of the S-box method and the encryption-decryption method. S-boxes should have a non-linear structure, and for this reason, K/DSA (Knutt Durstenfeld Shuffle Algorithm), which is one of the pseudo-random techniques, is used to generate S-boxes dynamically. The biggest advantage of this approach is the production of the inverted S-box with the S-box. Compared to the methods in the literature, the need to store the S-box is eliminated. Also, the fabr
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