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.
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The research study and analysis of the integration of marketing communications and their impact on the marketing performance of a number of telecom companies, as included in the research problem to know the role of marketing communications community in achieving sales and market share, profitability and customer satisfaction. The importance of research begins to be the right choice for the elements of marketing communications, lead to savings in time, effort and money and create a more idea about the effectiveness of the application of the concept of integration. The research to determine the role of marketing communications in promoting the integration of the marketing performance of companies in the field of sales and marke
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In this work, a deep computational study has been conducted to assign several qualities for the graph . Furthermore, determine the amount of the dihedral subgroups in the Held simple group He through utilizing the attributes of gamma.
Background: The anticancer impact of Epigallocatechin gallate (EGCG) the highly active polyphenol of green tea was abundantly studied. Though, the exact mechanism of its cytotoxicity is still under investigation. Objectives: Hence, the current study designed to investigate the molecular target of EGCG in HepG2 cells on thirteen autophagy- and/or apoptosis- related genes. Methods: The apoptosis detection analyses such as flow cytometry and dual apoptosis assay were used. The genes expression profile was explored by the real-time quantitative-PCR. Results: EGCG increases G0/G1 cell cycle arrest and the real-time apoptosis markers proteins leading to stimulate apoptos
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Before the start of delivery, any membranes rupture could be named as a premature rupture of membranes (PROM), which may need special obstetrical interactions to minimize perinatal complications, it is important topromptly diagnose PROM, the method used should be accurate, cheap, simple, and widely available. This was exactly the idea behind this study to use an ordinary pregnancy test kit aiming to confirm presence of PROM.Over a 6 months’ period, 60 pregnant women with a history of leaking liquor and a positive speculum examination for amniotic fluid pooling were collected prospectively and compared with other 60 women (control group) with uneventful pregnancy. Majority of patients with positive leaking liquor signs and symptoms had a p
... Show MoreThis study aimed to isolate and identify Cryptococcus species from three distinct sources: sputum samples of pigeon fanciers, dried pigeon droppings, and eucalyptus tree leaves. A total of 150 specimens were collected over a two-month period, comprising 50 samples each from human sputum, pigeon droppings collected across various areas of Baghdad, and eucalyptus leaves obtained from the Baghdad College of Veterinary Medicine. All samples were cultured on Sabouraud dextrose agar supplemented with chloramphenicol and incubated at 25°C for 2–3 days. From the initial cultures, 20 isolates presumptively identified as Cryptococcus spp. were obtained: 6 isolates (12%) from human sputum, 9 isolates (18%) from pigeon droppings, and 5 isol
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This study aimed to isolate and identify Cryptococcus species from three distinct sources: sputum samples of pigeon fanciers, dried pigeon droppings, and eucalyptus tree leaves. A total of 150 specimens were collected over a two-month period, comprising 50 samples each from human sputum, pigeon droppings collected across various areas of Baghdad, and eucalyptus leaves obtained from the Baghdad College of Veterinary Medicine. All samples were cultured on Sabouraud dextrose agar supplemented with chloramphenicol and incubated at 25°C for 2–3 days. From the initial cultures, 20 isolates presumptively identified as Cryptococcus spp. were obtained: 6 isolates (12%) from human sputum, 9 isolates (18%) from pigeon droppings, and 5 isol
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