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.
This contribution investigates structural, electronic, and optical properties of cubic barium titanate (BaTiO3) perovskites using first-principles calculations of density functional theory (DFT). Generalized gradient approximations (GGA) alongside with PW91 functional have been implemented for the exchange–correlation potential. The obtained results display that BaTiO3 exhibits a band gap of 3.21 eV which agrees well with the previously experimental and theoretical literature. Interestingly, our results explore that when replacing Pd atom with Ba and Ti atoms at 0.125 content a clear decrease in the electronic band gap of 1.052 and 1.090 eV located within the visible range of electromagnetic wavelengths (EMW). Optical parameters such as a
... Show MoreBeta thalassemia major (BTM) is a genetic disorder that has been linked to an increased risk of contracting blood-borne viral infections, primarily due to the frequent blood transfusions required to manage the condition. One such virus that can be transmitted through blood is the Human Parvovirus B19 (B19V). The aim of this study was to investigate the frequency and molecular detection of B19V. This study included 60 blood donors as controls and 120 BTM patients. B19V was identified by serology, which measured B19-IgG and B19-IgM antibodies. Nested Polymerase Chain Reaction (nPCR) was employed to target the VP1/VP2 structural proteins. The results showed that B19V seropositivity represents 27.5% (33 out of 120) in BTM patients, and
... Show MorePhenotypic And genotypic characteristics of Salmonella enterica serotype Typhi have been determined for 29 isolates, from Baghdad in 2007. Conventional typing methods were performed by biochemical tests, and antimicrobial susceptibility test. Molecular typing performed by analysis plasmid DNA beside using the Random Amplified Polymorphic DNA (RAPD-PCR). For the latter, two universal primers that have selected for the high discriminatory power were used for RAPD analysis. All isolates were belong one biotype according to the differention by their ability to decarboxylat lysine, 29(100%) were lysine (+). All the isolates were susceptible to the Antibiotics used. However, all the strains free of plasmids. RAPD was capable of grouping the strai
... Show MoreOpportunistic fungal infections due to the immune- compromised status of renal transplant patients are related to high rates of morbidity and mortality regardless of their minor incidence. Delayed in identification of invasive fungal infections (IFIs), will lead to delayed treatment and results in high mortality in those populations. The study aimed to assess the frequency of invasive fungal infection in kidney transplant recipients by conventional and molecular methods. This study included 100 kidney transplant recipients (KTR) (75 males, and 25 females), collected from the Centre of Kidney Diseases and Transplantation in the Medical City of Baghdad. Blood samples were collected during the period from June 2018 to April 2019. Twent
... Show MoreManual probing and periodontal charting are the gold standard for periodontal diagnosis that have been used in practice over a century. These methods are affordable and reliable but they are associated with some drawbacks that cannot be avoided. Among these issues is their reliance on operator’s skills, time-consuming and tedious procedure, lack sensitivity especially in cases of early bone loss, and causing discomfort to the patient. Availability of a wide range of biomarkers in the oral biofluids, dental biofilm, and tissues that potentially reflect the periodontal health and disease accurately encouraged their use as predictive/diagnostic/monitoring tools. Analysing biomarkers during care-giving to the patient using chairside kits i
... Show MoreThe feline calicivirus (FCV) is a highly contagious and infectious virus that infects cats and causes moderate to stringent respiratory infections and oropharyngeal illness. It is prevalent in shelters and birthplace colonies and frequently infects kitten cats. 50 distinct cats were involved in the research, with samples acquired between October 2020 and January 2021. Swabs were taken from the oropharynx and conjunctiva, conditional on the signs of FCV disease septicity, to inspect viral nucleic acid from collecting samples, then extract the RNA from the swabs and turn it into a cDNA particle, and finally distinguishing the open reading frame nucleic acid gene 2 using a primer special for feline calicivirus, All specimens were taken
... Show MoreThis paper proposes two hybrid feature subset selection approaches based on the combination (union or intersection) of both supervised and unsupervised filter approaches before using a wrapper, aiming to obtain low-dimensional features with high accuracy and interpretability and low time consumption. Experiments with the proposed hybrid approaches have been conducted on seven high-dimensional feature datasets. The classifiers adopted are support vector machine (SVM), linear discriminant analysis (LDA), and K-nearest neighbour (KNN). Experimental results have demonstrated the advantages and usefulness of the proposed methods in feature subset selection in high-dimensional space in terms of the number of selected features and time spe
... Show MoreBackground:Amino acid disorders are a major group of inborn error metabolism (IEM) with variable clinical presentation; its diagnosis constitutes a real challenge in a community with high consanguinity rate and no systematic newborn screening.
Objectives: to provide data about amino acid disorders detected in high-risk Iraqi children by using quantitative amino acid fluorescent high performance liquid chromatography (HPLC) analysis.
Type of the study: Cross-sectional study.
Methods: a descriptive cross sectional study from 1st February to 1st December 2014, at Neurological ward and clinic of the Children Welfare teaching Hospital, in Baghdad - Ira
... Show MoreIntroduction: Breast cancer is the most common cancer and the major cause of cancer related deaths among Iraqi women. Due to the relatively late detection of breast cancer, the majority of the patients are still treated by modified radicle mastectomy. Aim: To assess the time lag between diagnosis of breast cancer and mastectomy among Iraqi patients; correlating the findings with other clinicopathological characteristics of the disease. Patients and methods: This retrospective study enrolled 226 Iraqi female patients who were diagnosed with breast cancer. Data were registered on the exact time period between signing the histopathological report and the surgical treatment. Other recorded variables included the age of the patients, their level
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