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.
OBJECTIVE: Synthetic vertebral body replacement has been widely used recently to treat different spinal conditions affecting the anterior column. They arrange from trauma, infections, and even tumor conditions. In this study, we assess the functional outcome of this modality in different spinal conditions. PATIENTS AND METHODS: Thirty-six cases operated from October 2010 to December 2017. Twelve patients had spinal type A3 fractures, 11 cases with spinal tuberculosis (TB), and 13 cases with spinal tumors. They were followed clinically for a mean period of 2.4 years. RESULTS: All the cases were approached anteriorly. Seven cases had a post-operative infection. No neurological worsening reported. We had dramatic neurologic
... Show MoreThere is no access to basic sanitation for half the world's population, leading to Socioeconomic issues, such as scarcity of drinking water and the spread of diseases. In this way, it is of vital importance to develop water management technologies relevant to the target population. In addition, in the separation form of water treatment, the compound often used as a coagulant in water treatment is aluminum sulfate, which provides good results for raw water turbidity and color removal. Studies show, however, that its deposition in the human body, even Alzheimer's disease, can cause serious harm to health and disease development. The study aims to improve the coagulation/flocculation stage related to the amount of flakes, i
... Show MoreObjective(s): To assess mothers’ knowledge about their children with sickle cell anemia and non-Pharmacological approaches to pain management and found some relationship between mothers knowledge and their demographic data of age, level of education, and occupation.
Methodology: A descriptive design used in the present study established was for a period from September 19th, 2020 to March 30th, 2021. The study was conducted on a non-probability (purposive) sample of (30) mother their children with sickle cell anemia was chosen. The data were analyzed through the application of descriptive and inferential statistical approaches which are applied by using SPSS version 22.0.
Results: The findings of the study indicated that moderate
: Summary Iraq suffered under the British administration during the First World War and its entry into an occupation of economic backwardness, and this economic backwardness was linked to the phenomenon of linking Iraq economically to the capitalist world by keeping it as a source of raw materials and a market for capitalist goods, and that the occupation authorities controlled Iraq's economic goods and wealth and mocked them to serve its interests and achieve their political and economic goals that it drew before the war.
BACKGROUND: HLA-B27 can effect clinical presentation and course of ankylosing spondylitis. Different detection techniques of HLA-B27 are available with variable sensitivities and specificities. OBJECTIVE: To compare serologic and molecular diagnostic techniques of detecting HLA-B27 status and to correlate it with some clinical variables among ankylosing spondylitis patients. PATIENTS AND METHODS: A cross-sectional study was conducted on 83 Iraqi patients with ankylosing spondylitis. Clinical and laboratory evaluations were reported. HLA-B27 status was determined in all patients by real-time PCR using HLA-B27 RealFast™ kit; ELISA method was used as well to detect soluble serum HLA-B27 antigens using Human Leukocyte Antigen® kit. RESULTS:
... Show MoreAbstract:The optimum design of the magnetic deflector with the lowest values of the radial and spiral distortion aberration coefficients was computed. The optimized calculations were made using three models, Glaser bell-shaped, Grivet-lenz and exponential models. By using the optimum axial field distribution, the pole pieces shape which gave rise to those field distributions was found by using the reconstruction method. The calculations show that the results of the three models coincide at the lower values of the excitation parameter. In general the Glaser- bell shaped model gives the optimum results at the whole range of the excitation parameter under investigation.The negative values of the spiral distortion aberration coefficient appears
... Show MoreRecently, there has been an increase in the prevalence of ulcerative colitis (UC), and inflammatory bowel diseases (IBD) worldwide, especially in certain recently industrialized countries like China and In¬dia. Globally, the prevalence of UC, a chronic illness that affects the large intestine, is rising. Fifty adherent invasive Escherichia coli (AIEC) isolates were identified from ulcerative colitis biopsy samples originating from the Gastrointestinal tract (GIT) and Hepatology teaching hospitals/medical city in Baghdad City. The test’s results demonstrated that the AIEC isolates had a high level of resistance to the majority of the an-tibiotics under investigation. Enterobacterial Repetitive Intergenic Consensus (ERIC-PCR) and m
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