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.
Previous studies on the synthesis and characterization of metal chelates with uracil by elemental analysis, conductivity, IR, UV-Vis, NMR spectroscopy, and thermal analysis were covered in this review article. Reviewing these studies, we found that uracil can be coordinated through the electron pair on the N1, N3, O2, or O4 atoms. If the uracil was a mono-dentate ligand, it will be coordinated by one of the following atoms: N1, N3 or O2. But if the uracil was bi-dentate ligand, it will be coordinated by atoms N1 and O2, N3 and O2 or N3 and O4. However, when uracil forms complexes in the form of polymers, coordination occurs through the following atoms: N1 and N3 or N1 and O4.
(52)
(51)
(53)
(51)
Adenosine deaminase (ADA; Ec: 3.5.4.4), 5´- Nucleotidase (5´– NT; Ec: 3.1.3.5), and AMP – amino hydrolase (AMP – deaminase AMPDA; Ec: 3.5.4.6) activities were measured in sera of ovarian cancer patients before surgery, and after chemotherapy. The results indicated that ADA specific activity increased significantly (P<0.05), while 5´-NT and AMPDA specific activity decreased significantly (P<0.05) in ovarian cancer patients before surgery in comparison with those of their corresponding control women and benign tumors groups. When the activities of these enzymes were measured after chemotherapy, a significant decrease (P<0.05) in ADA activity, and a significant increase (P<0.05) in 5´- NT and AMPDA activities w
... Show More
Scientific development has occupied a prominent place in the field of diagnosis, far from traditional procedures. Scientific progress and the development of cities have imposed diseases that have spread due to this development, perhaps the most prominent of which is diabetes for accurate diagnosis without examining blood samples and using image analysis by comparing two images of the affected person for no less than a period. Less than ten years ago they used artificial intelligence programs to analyze and prove the validity of this study by collecting samples of infected people and healthy people using one of the Python program libraries, which is (Open-CV) specialized in measuring changes to the human face, through which we can infer the
... Show More
(1)
Background: Cervical lymph nodes are prone to involved by a number of pathologic processes. They are common sites for lymphoma, metastasis, and reactive enlargement in a number of conditions. Aims of the study:-Clinical evaluation of patients with cervical lymphadenopathy. Differentiation between benign and malignant lymph nodes by means of ultra sounds (US) and Correlate the US findings with cytological and/or histopathological findings of cervical lymph nodes. Subjects, Materials and Methods:-The present study was carried out over a period of 6 months and included 81 patients of different age groups presenting with cervical lymphadenopathy. Each patient was examined clinically, then comprehensive sonographic examination of the neck for
... Show More
In this paper Hermite interpolation method is used for solving linear and non-linear second order singular multi point boundary value problems with nonlocal condition. The approximate solution is found in the form of a rapidly convergent polynomial. We discuss behavior of the solution in the neighborhood of the singularity point which appears to perform satisfactorily for singular problems. The examples to demonstrate the applicability and efficiency of the method have been given.
Genus Salix is among family Salicaceae, distributing in the northern hemisphere. It is represented in Egypt by two species (Salix mucronata and Salix tetrasperma). The classification of Salix at the generic and infra-generic levels is still outstanding. We have agreed to list the Egyptian species of this genus. We collected them during field trips to most Egyptian habitats; fresh and herbarium specimens were subjected to taxonomic revision based on morphological characters; scanning electron microscope (SEM) for pollen grains; isozyme analysis using esterase and peroxidase enzymes and genetic diversity using random amplified polymorphic DNA (RAPD). We recorded that both sexes of S.
(3)
(1)
Background: Obesity is an evolving major health problem in both developed and developing countries. Traditional obesity indices as body mass index, waist circumference, waist-hip-ratio are well known measures to identify obese subjects, however, neck circumference as an index of upper-body obesity was found to be a simple and time-saving screening measure that can be used to identify obesity and the likelihood of developing metabolic syndrome in type 2 diabetic patients.
Aim: to investigate the relationship of neck circumference (NC) to obesity and metabolic syndrome in Iraqi subjects with type 2 diabetes.
Methods: The study group included 90 type 2 diabetic subjects (48 men and 42 women) aged 30-68 years. The subjects were those w
Developing and researching antenna designs are analogous to excavating in an undiscovered mine. This paper proposes a multi-band antenna with a new hexagonal ring shape, theoretically designed, developed, and analyzed using a CST before being manufactured. The antenna has undergone six changes to provide the best performance. The results of the surface current distribution and the electric field distribution on the surface of the hexagonal patch were theoretically analyzed and studied. The sequential approach taken to determine the most effective design is logical, and prevents deviation from the work direction. After comparing the six theoretical results, the fifth model proved to be the best for making a prototype. Measured results rep
... Show More
(1)
The aerodynamic characteristics of the forward swept wing aircraft have been studied theoretically and experimentally. Low order panel method with the Dirichlet boundary condition have been used to solve the case of the steady, inviscid and compressible flow. Experimentally, a model was manufactured from wood to carry out the tests. The primary objective of the experimental work was the measurements of the wake dimensions and orientation, velocity defect along the wake and the wake thickness. A blower type low speed (open jet) wind tunnel was used in the experimental work. The mean velocity at the test section was (9.3 m/s) and the Reynolds number based on the mean aerodynamic chord and the mean velocity was (0.46x105). The measurements sho
... Show More