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Molecular Genetics Innovations in Diagnosis of Metabolic Disorders: Integration with Multi-Omics and Computational Approaches (Review Article)
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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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Publication Date
Fri Jan 01 2016
Journal Name
International Archives Of Medicine
The role of MRI in the diagnosis of intra articular knee derangement: A prospective study
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Publication Date
Tue Jan 24 2023
Journal Name
Journal Of Advanced Biotechnology And Experimental Therapeutics
Influence of the high mobility group A1 genetic polymorphism on indices of metabolic syndrome and insulin resistance in the Iraqi population: Case-control study
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The high mobility group A1 gene (HMGA1) rs139876191 variant has been related to metabolic syndrome and type 2 diabetes, but data are lacking in Middle Eastern populations. The study aimed to assess whether the HMGA1 rs139876191 variant is associated with metabolic syndrome risk and whether this variant predicts the risk of insulin resistance. This case-control study was carried out at single center in Kirkuk city/ Iraq from February to August 2022. Polymorphisms in HMGA1 and genotyping were identified by Sanger sequencing of genomic DNA obtained from 91 Iraqi participants (61 patients with metabolic syndrome and 30 control). Lipid profile, serum (glucose and insulin), glycated hemoglobin, blood pressure, body mass index, and waist circumfer

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Publication Date
Tue Aug 01 2023
Journal Name
Baghdad Science Journal
A New Model Design for Combating COVID -19 Pandemic Based on SVM and CNN Approaches
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       In the current worldwide health crisis produced by coronavirus disease (COVID-19), researchers and medical specialists began looking for new ways to tackle the epidemic. According to recent studies, Machine Learning (ML) has been effectively deployed in the health sector. Medical imaging sources (radiography and computed tomography) have aided in the development of artificial intelligence(AI) strategies to tackle the coronavirus outbreak. As a result, a classical machine learning approach for coronavirus detection from      Computerized Tomography (CT) images was developed. In this study, the convolutional neural network (CNN) model for feature extraction and support vector machine (SVM) for the classification of axial

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Publication Date
Wed Apr 25 2018
Journal Name
Oriental Journal Of Chemistry
Diagnosis, Structure, and In vitro Antimicrobial and Antifungal Evaluation of some Amino benzoic acids, derived Ligand Schiff base and their Mixed Complexes with Cu(II), Hg(II), Mn(II), Ni(II) and Co(II)
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Publication Date
Wed Apr 25 2018
Journal Name
Oriental Journal Of Chemistry
Diagnosis, Structure, and In vitro Antimicrobial and Antifungal Evaluation of some Amino benzoic acids, derived Ligand Schiff base and their Mixed Complexes with Cu(II), Hg(II), Mn(II), Ni(II) and Co(II)
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Innovative various Schiff bases and their Co(II), Ni(II) and Cu(II) and Hg(II)  compounds made by the condensation of 4-amino antipyrine with derived aminobenzoic acid (2-aminobenzoic acid, 3-aminobenzoic acid, and 4-aminobenzoic acid ) have been prepared by conventional approaches. These complexes were described by magnetic sensibility analysis, FT-IR spectra, and molar-conductance and elemental analysis. Analytical values appeared which the mixed-ligand complexes presented ratio about 2:1 (ligand: metal) with the chelation 4 or 6. The prepared compounds offered a good effect on the organisms; bacteria Staphylococcus-aurous, Escherichia-coli and fungi C. albicans, A. niger. Also, the biological products signalize which the mixed compl

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Publication Date
Sun Dec 31 2023
Journal Name
Advancements In Life Sciences
Molecular identification of Epstein-Barr virus in human placental tissue
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Background: The Epstein-Barr virus (EBV) relates to the torch virus family and is believed to have a substantial impact on mortality and perinatal events, as shown by epidemiological and viral studies. Moreover, there have been documented cases of EBV transmission occurring via the placenta. Nevertheless, the specific location of the EBV infection inside the placenta remains uncertain. Methods: The genomic sequences connected to the latent EBV gene and the levels of lytic EBV gene expression in placental chorionic villous cells are examined in this work. A total of 86 placentas from patients who had miscarriage and 54 placentas from individuals who had successful births were obtained for analysis. Results: The research employed QPCR to dete

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Publication Date
Sun Jan 01 2023
Journal Name
Plant Protection
Molecular Characterization of Cucumber Mosaic Virus Subgroup IB in Iraq
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Publication Date
Sun May 10 2020
Journal Name
Baghdad Science Journal
Molecular Analysis of Rifampicin Resistance Conferring Mutations in Mycobacterium tuberculosis
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Mycobacterium tuberculosis resistance to rifampicin is mainly mediated through mutations in the rpoB gene. The effects of rpoB mutations are relieved by secondary mutations in rpoA or rpoC genes. This study aims to identify mutations in rpoB, rpoA, and rpoC genes of Mycobacterium tuberculosis isolates and clarify their contribution to rifampicin resistance. Seventy isolates were identified by acid-fast bacilli smear, Genexpert assay, and growth on Lowenstein Jensen medium. Drug susceptibility, testing was performed by the proportional method.  DNA extraction, PCR, and sequencing were accomplished for the entire rpoA, rpoB, and

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Publication Date
Wed Mar 10 2021
Journal Name
Baghdad Science Journal
Molecular Typing of Two Suspected Cutaneous Leishmaniasis Isolates in Baghdad
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Leishmaniasis is a group of parasitic diseases caused by Leishmania spp., an endemic infectious agent in developing countries, including Iraq. Diagnosis of cutaneous lesion by stained smears, serology or histopathology are inaccurate and unable to detect the species of Leishmania. Here, two molecular typing methods were examined to identify the promastigotes of suspected cutaneous leishmaniasis samples, on a species level. The first was species-specific B6-PCR and the second was ITS1-PCR followed by restriction fragment length polymorphism (RFLP) using restriction enzyme HaeIII. DNA was extracted from in vitro promastigote culture followed by amplification of kDNA by B6 or amplification and digestion of LITSR/L

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Publication Date
Thu Mar 24 2022
Journal Name
Journal Of Experimental Botany
Molecular basis of differential adventitious rooting competence in poplar genotypes
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Recalcitrant adventitious root (AR) development is a major hurdle in propagating commercially important woody plants. Although significant progress has been made to identify genes involved in subsequent steps of AR development, the molecular basis of differences in apparent recalcitrance to form AR between easy-to-root and difficult-to-root genotypes remains unknown. To address this, we generated cambium tissue-specific transcriptomic data from stem cuttings of hybrid aspen, T89 (difficult-to-root) and hybrid poplar OP42 (easy-to-root), and used transgenic approaches to verify the role of several transcription factors in the control of adventitious rooting. Increased peroxidase activity was positively correlated with better rooting. We foun

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