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 recent years, the performance of Spatial Data Infrastructures for governments and companies is a task that has gained ample attention. Different categories of geospatial data such as digital maps, coordinates, web maps, aerial and satellite images, etc., are required to realize the geospatial data components of Spatial Data Infrastructures. In general, there are two distinct types of geospatial data sources exist over the Internet: formal and informal data sources. Despite the growth of informal geospatial data sources, the integration between different free sources is not being achieved effectively. The adoption of this task can be considered the main advantage of this research. This article addresses the research question of ho
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The hydraulic behavior of the flow can be changed by using large-scale geometric roughness elements in open channels. This change can help in controlling erosions and sedimentations along the mainstream of the channel. Roughness elements can be large stone or concrete blocks placed at the channel's bed to impose more resistance in the bed. The geometry of the roughness elements, numbers used, and configuration are parameters that can affect the flow's hydraulic characteristics. In this paper, velocity distribution along the flume was theoretically investigated using a series of tests of T-shape roughness elements, fixed height, arranged in three different configurations, differ in the number of lines of roughness element
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AR Al-Heany BSc, PKESMD MSc., PSAANBS PhD, APAANMD MSc., DDV, FICMS., IOSR Journal of Dental and Medical Sciences (IOSR-JDMS), 2014 - Cited by 14
This paper introduces a non-conventional approach with multi-dimensional random sampling to solve a cocaine abuse model with statistical probability. The mean Latin hypercube finite difference (MLHFD) method is proposed for the first time via hybrid integration of the classical numerical finite difference (FD) formula with Latin hypercube sampling (LHS) technique to create a random distribution for the model parameters which are dependent on time [Formula: see text]. The LHS technique gives advantage to MLHFD method to produce fast variation of the parameters’ values via number of multidimensional simulations (100, 1000 and 5000). The generated Latin hypercube sample which is random or non-deterministic in nature is further integ
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Modern machine-learning applications require GPUs, and modern platforms can leverage numerous GPUs on one or more machines to increase performance. Contemporary deep-learning models are too huge for CPU or GPU training. Training these models with many GPUs without performance degradation is necessary to train them rapidly and maximize GPU consumption. Thus, training deep convolutional neural networks (DCNN) with multiple GPUs has become necessary for improving training. Therefore, we presented a parallel design and development of an efficient model for enhancing face mask CNN performance and improving resource efficiency. This DCNN model is a parallel training system over multiple GPUs, a multi-core CPU, and a multi-process GPU platform wit
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Evaluation of Dot. ELISA test for Diagnosis Visceral Leishmaniasis in Infected Children
A long-span Prestressed Concrete Hunched Beam with Multi-Opening has been developed as an alternative to steel structural elements. The commercial finite element package ABAQUS/CAE version 2019 has been utilized. This article has presented the results of three-dimensional numerical simulations investigating the flexural behaviour of existing experimental work of supported Prestressed Concrete Hunched Beams with multiple openings of varying shapes under static monotonic loads. Insertion openings in such a beam lead to concentrate stresses at the corners of these openings; as a result, extensive cracking would appear. Correlation between numerical models and empirical work has also been discussed regarding load displacemen
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Purpose: This study aimed to compare the stability and marginal bone loss of implants inserted with flapped and flapless approaches 8 weeks after surgery and 3 months after loading. Material and Methods: Thirty SLActive implants were inserted in 11 patients and early loaded with final restoration 8 weeks after healing period. The stability values determined by Osstell and the marginal bone loss measured by CBCT at the initial time (1st) and 8 weeks of the healing period (2nd) and 3 months after loading (3rd). Results: The overall survival rate was 100%. A significant increase in the 3rd implant stability value in the age of ˂ 40. A significant decrease in the 2nd implant stability value in both gender and traumatic zone with a flapless app
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Background: Tumors of the oral cavity are under
estimated in general dental and medical practice,
some authors describe it as the forgetting disease,
others wondering if the attention paid to this disease
compared to its fatality (The 5-year survival rate is
about 50%) is enough for disease control? However;
this disease deserves a comprehensive assessment by
all dental and medical fields assumed to examine the
oral cavity regularly, especially otolaryngologist.
Objectives: To find out the sensitivity and specificity
of clinical examination in diagnosing oral tumors and
premalignant conditions by otolaryngologist.
Methods: Across sectional retrospective study was
conducted in the:
-study design: