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.
In the present study, chalcone derivatives were synthesized via the Claisen-Schmidt condensation of 2-methyl acetanilide or 4-nitro acetanilide with p-dimethyl amino benzaldehyde in an ethanolic sodium hydroxide solution. The resulting chalcone reacted with urea or thiourea to produce several novel pyrimidine derivatives. All the synthesized compounds were characterized by FTIR, 1HNMR and 13CNMR spectroscopy. Before the synthesis process, molecular docking studies were performed to evaluate the potential of the synthesized molecules as drug candidates. Thus, molecular docking studies were performed using the CCDC GOLD suite (version 2025). The molecular docking results showed that the synthesized molecules had a noticeable affinity towards
... Show MoreThe research aims to demonstrate the dual use of analysis to predict financial failure according to the Altman model and stress tests to achieve integration in banking risk management. On the bank’s ability to withstand crises, especially in light of its low rating according to the Altman model, and the possibility of its failure in the future, thus proving or denying the research hypothesis, the research reached a set of conclusions, the most important of which (the bank, according to the Altman model, is threatened with failure in the near future, as it is located within the red zone according to the model’s description, and will incur losses if it is exposed to crises in the future according to the analysis of stress tests
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CD40 is a type 1 transmembrane protein composed of 277 amino acids, and it belongs to the tumor necrosis factor receptor (TNFR) superfamily. It is expressed in a variety of cell types, including normal B cells, macrophages, dendritic cells, and endothelial cells, as a costimulatory molecule. This study aims to summarize the CD40 polymorphism effect and its susceptibility to immune-related disorders. The CD40 gene polymorphisms showed a significant association with different immune-related disorders and act as a risk factor for increased susceptibility to these diseases.
Background: Enforcement of sustainable and green chemistry protocols has seen colossal surge in recent times, the development of an effective, eco-friendly, simple and novel methodologies towards the synthesis of valuable synthetic scaffolds and drug intermediates. Recent advances in technology have now a more efficient means of heating reactions that made microwave energy. Efforts to synthesize novel heterocyclic molecules of biological importance are in continuation. Microwave irradiation is well known to promote the synthesis of a variety of organic and inorganic compounds. The aim of current study was to conceivea mild base mediated preparation of novel Schiff base of 2-Acetylpheno with trimethoprim drug (H2TPBD) and its complexes w
... Show MoreBackground Rectal cancer is one of the most common malignant tumors of gastrointestinal tract. Combining chemotherapy with radiotherapy has a sound effect on its management.
Objectives Assessment the patterns of characterizations of rectal cancer. Evaluation of the efficacy, and long-term survival of pre-/ postoperative chemoradiation. Collecting all eligible evidence articles and summarize the results.
Methods By this systematic review and meta-analysis study, we include data of chemoradiation of rectal cancer articles from 2015 until 2019. The research was carried out at Baghdad Medical City oncology centers. Accordance with the
Wastewater recycling for non-potable uses has gained significant attention to mitigate the high pressure on freshwater resources. This requires using a sustainable technique to treat natural municipal wastewater as an alternative to conventional methods, especially in arid and semi-arid rural areas. One of the promising techniques applied to satisfy the objective of wastewater reuse is the constructed wetlands (CWs) which have been used extensively in most countries worldwide through the last decades. The present study introduces a significant review of the definition, classification, and components of CWs, identifying the mechanisms controlling the removal process within such units. Vertical, horizontal, and hybrid CWs
... Show MoreBackground: Imaging has a critical role in the diagnosis and evaluation of cardiac diseases, beginning with chest radiography and fluoro-scopy and progressing to coronary angio-graphy, echocardiography, nuclear medicine and recently multidetector computed tomo-graphy (MDCT) as well as magnetic resonance (MR) imaging
Objective: To highlight the role of Multi-detector CT in the evaluation of coronary artery disease and its importance of being noninvasive diagnostic technique.
Methods: A cross sectional study for 20 patients. Patients were asked to fast 6 hours prior to the examination and the patients with heart rates above 65 beats per minute were given cardio-
... Show MoreQuality control of well logs has always been an important objective in reservoir studies because of the key role played by well logs as input data. This study aims to make a quality control on well logs data for two wells of Yamama formation in southern Iraqi field to ensuring and enhancing the measurement accuracy. In the beginning, the calibration data of before and after surveys are applied as initial evaluation for the quality of density log in well R-1. Then, depth matching is used to fit the depth of all logs in each well. After that, the comparison between the main and repeat sections is helped to check the repeatability. Finally, all uncorrected logs are environmentally corrected to remove the effects of the borehole conditi
... Show MoreThis search has introduced the techniques of multi-wavelet transform and neural network for recognition 3-D object from 2-D image using patches. The proposed techniques were tested on database of different patches features and the high energy subband of discrete multi-wavelet transform DMWT (gp) of the patches. The test set has two groups, group (1) which contains images, their (gp) patches and patches features of the same images as a part of that in the data set beside other images, (gp) patches and features, and group (2) which contains the (gp) patches and patches features the same as a part of that in the database but after modification such as rotation, scaling and translation. Recognition by back propagation (BP) neural network as
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