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; Perforated duodenal ulcer (PDU) is a common surgical emergency that is associated with high mortality and morbidity. Early diagnosis and prompt surgical treatment is required to prevent grave complications.
Objective; The study was designed to evaluate the diagnostic accuracy of different radiological investigations in the diagnosis of perforated duodenal ulcer.
Methods; A prospective study of 185 pts with PDU at al kindy teaching hospital, Baghdad, Iraq from June 2008- august 2010. patients were examined clinically and investigated by blood test, chest x ray, plain X ray of the abdomen. Ultrasonography (U/S) and CT scanning done for those patients with negative X- ray finding. Resuscitation by intravenous fluid and ant
Abstract Objective: The underlying molecular basis of ischemic heart diseases (IHDs) has not yet been studied among Iraqi people. This study determined the frequency and types of some cardiovascular genetic risk factors among Iraqi patients with IHDs. Methods: This is a cross-sectional study recruiting 56 patients with acute IHD during a 2-month period excluding patients >50 years and patients with documented hyperlipidemia. Their ages ranged between 18 and 50 years; males were 54 and females were only 2. Peripheral blood samples were aspirated from all patients for troponin I and DNA testing. Molecular analysis to detect 12 common cardiovascular genetic risk factors using CVD StripAssay® (ViennaLab Diagnostics GmbH, Austria) was performed
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BACKGROUND: Genetic skeletal abnormalities are a heterogeneous group of genetic disorders frequently presenting with disproportionate short stature. AIM OF THE STUDY: To give an idea about the frequency of genetic skeletal abnormalities, and to find out whether these disorders are really increasing in the last 16 years or not. METHODS: During the period extending from (Jan, 1st 2003-April, 1st 2007), all cases of genetic skeletal disorders referred to the Genetic Counseling Clinic, Medical City – Baghdad who were born after 1991 were included in this study as the post-war group; the pre-war group, included all cases of skeletal disorders referred prior to 1991 (Jan., 1st 1987-Jan., 1st 1990). The demographic parameters, family history of
... Show MoreIn accordance with epidemic COVID-19, the elevated infection rates, disinfectant overuse and antibiotic misuse what led to immune suppression in most of the population in addition to genotypic and phenotypic alterations in the microorganisms, so a great need to reevaluate the genetic determinants that responsible for bacterial community (biofilm) has been raised. A total of 250 clinical specimens were obtained from patients in Baghdad hospitals and streaked on Mannitol salt agar medium. The results revealed that 156 isolates appeared as round yellow colonies, indicating that they were mostly identified as Staphylococcus aureus from 250 specimens. The antibiotic resistance pattern of the isolates for methicillin 37.17% (n=58), Amoxic
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Background:SARS-CoV-2 infection has caused a global pandemic that continues to negatively impact human health. A large group of microbial domains including bacteria co-evolved and interacted in complex molecular pathogenesis along with SARS-CoV-2. Evidence suggests that periodontal disease bacteria are involved in COVID-19, and are associated with chronic inflammatory systemic diseases. This study was performed to investigate the association between bacterial loads of Porphyromonas gingivalis and pathogenesis of SARS-CoV-2 infection. Fifty patients with confirmed COVID-19 by reverse transcriptase-polymerase chain reaction, their age ranges between 20-76 years, and 35 healthy volunteers (matched accordingly with age and sex to th
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