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.
Background: Rheumatoid arthritis is an autoimmune disease that affects mainly the synovial membranes and articular structures and is characterized by chronic, systemic inflammation involving multiple joints.Being a synovial joint, the Temporomandibular Joint is subject to the same disorders affecting other synovial joints, including RA.Beside it was considered as a specific serological marker for diagnosing RA disease ,antibodies to cyclic citrullinated peptide have proven to be associated with joints destruction, though; it may play a potential role in the prediction of the disease severity. Materials and Methods: Sixty nine individuals (69) were enrolled in this study, forty nine (49) were patients diagnosed with Rheumatoid Arthritis, a
... Show MoreAbstractBackground:Psoriasis is an inflammatorydiseasewhichcan be associated with otherdiseases, which may have amajor impact onpatientslife. Psoriasis has also been reported tobe associated with metabolic disorders.Metabolic syndrome(MS)isa combination ofmedicaldisorders that, when occurring together,increasesthe risk of development ofcardiovasculardiseasesanddiabetes.It affectsone in five people in the United States andtheprevalence increases with age. Some studieshave showntheprevalencein the USA to be anestimated 25% of the population.Objective:To investigate the prevalence ofmetabolic syndrome in patients with psoriasis.Methods: We performed a hospital-based case-
KE Sharquie, AA Noaimi, MS Younis, BS Al-Sultani, Journal of Cosmetics, Dermatological Sciences and Applications, 2015 - Cited by 8
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The essay discusses how different environmental factors affect plant growth by explaining how each factor affects the physiological processes within the plant. The essay begins by explaining the effect of temperature on plant growth, as high or low temperatures can significantly affect the rate of photosynthesis and lead to a reduction in water and nutrient absorption. It also discusses the light intensity impacting plants because the more appropriate the light intensity is, the more enhanced the plant's photosynthesis ability, and in the excess or insufficient light condition, the growth can be inhibited. Additionally, the article outlines the effect of water shortage on the plant because this leads to the closure of stomata to avoid water
... Show MoreAbstract: Background: Prediabetes and are increasing in prevalence all over the world, they each carry risks to the future development of diabetes mellitus and cardiovascular disease. These risks will be greatly exaggerated if they occur together in the same individual. The aim of the study was to find the prevalence and the association of prediabetes and metabolic syndrome, in addition to analyzing the correlation of the risk factors that lead to their development. Material and Methods: This was a cross-sectional, simple random study that included 300 Iraqi individuals, aged between 30-75 years, who accepted to take part in this study were recruited. Result: Prevalence of prediabetes and metabolic syndrome was (33.66%) and (42%) r
... Show MoreThe hazardous metabolic effects of treating schizophrenia patients with olanzapine comprise serotonin 2C receptor (5-HT2C) antagonists. Metabolic side effects of antipsychotic drugs, including lipid abnormalities, disturbed glucose metabolism, and weight gain, can have a major impact on treating psychiatric patients. The intent of this study was to investigate whether there is an associated link between the genetic polymorphism at -759C>T in the promoter region of the 5-hydroxytryptamine 2C receptor (HTR2C) gene and the metabolic syndrome driven by olanzapine in schizophrenia patients. A cross-sectional study that involved fifty hospitalized patients with schizophrenia. The patients were split into two groups (metabolic and non-metab
... Show MoreBackground: Acute appendicitis is the most common surgical abdominal emergency with a life time prevalence of 1 to 7 individuals. Because the clinical diagnosis of acute appendicitis remains a challenge to surgeons, so different aids were introduced like different scoring systems, computer aided programs, ultrasonography, computerized tomography, Magnetic resonance imaging, Gastrointestinal tract contrast studies and laparoscopy to improve the diagnostic accuracy.
Objective: To evaluate ultrasound in the diagnosis of acute appendicitis in those patients clinically diagnosed with histopathology as gold standard.
Methods: A cross sectional study carried in Al-kindy Teaching
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