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: Neonatal hyperbilirubinemia is a prevalent condition commonly treated with phototherapy. While effective, phototherapy can cause adverse effects such as dehydration and maternal separation, necessitating complementary care strategies. Objectives: This systematic review aims to evaluate the efficacy of foot reflexology and related tactile interventions on bilirubin levels and physiological parameters in neonates undergoing treatment for hyperbilirubinemia. Methods: A systematic search was conducted across five electronic databases (PubMed, Scopus, Web of Science, Google Scholar, and Cochrane Library) for studies published between 2019 and 2025. The review followed the PRISMA guidelines and PICOS framework. Twenty studies,
... Show MoreMethylotrophs bacteria are ubiquitous, and they have the ability to consume single carbon (C1) which makes them biological conversion machines. It is the first study to find facultative methylotrophic bacteria in contaminated soils in Iraq. Conventional PCR was employed to amplify MxaF that encodes methanol dehydrogenase enzyme. DNA templates were extracted from bacteria isolated from five contaminated sites in Basra. The gene specific PCR detected Methylorubrum extorquens as the most dominant species in these environments. The ability of M. extorquens to degrade aliphatic hydrocarbons compound was tested at the laboratory. Within 7 days, gas chromatographic (GC) studies of remaining utilize
... Show MoreBefore the start of delivery, any membranes rupture could be named as a premature rupture of membranes (PROM), which may need special obstetrical interactions to minimize perinatal complications, it is important topromptly diagnose PROM, the method used should be accurate, cheap, simple, and widely available. This was exactly the idea behind this study to use an ordinary pregnancy test kit aiming to confirm presence of PROM.Over a 6 months’ period, 60 pregnant women with a history of leaking liquor and a positive speculum examination for amniotic fluid pooling were collected prospectively and compared with other 60 women (control group) with uneventful pregnancy. Majority of patients with positive leaking liquor signs and symptoms had a p
... Show MoreBackground: Beta thalassemia major (β-TM) is an inheritable condition with many complications, especially in children. The blood-borne viral infection was proposed as a risk factor due to the recurrent blood transfusion regimen (hemotherapy) as human parvovirus B19 (B19V). Objective: This study investigated the B19V seroprevalence, DNA presence, B19V viral load, and B19V genotypes in β-TM patients and blood donors. Methods: This is a cross-sectional study incorporating 180 subjects, segregated into three distinct groups each of 60 patients, namely control, β-TM, and β-TM infected with Hepatitis C Virus (HCV). For the B19V prevalence in the studied group, the ELISA technique and real-time PCR were used. The genotyping was follo
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The most famous thing a person does is talk. He loves and hates, and continues with it confirming relationships, and with it, too, comes out of disbelief into faith. Marry a word and separate with a word. He reaches the top of the heavens with a kind word, with which he will gain the pleasure of God, and the Lord of a word that the servant speaks to which God writes with our pleasure or throws him on his face in the fire. Emotions are inflamed, the United Nations is intensified with a word, and relations between states and war continue with a word.
What comes out of a person’s mouth is a translator that expresses the repository of his conscience and reveals the place of his bed, for it is evidence of
... Show MoreA field experiment was carried out to test the efficiency of potassium silicate and wild eggplant
The process of evaluating business processes, complex, repetition of procurement processes, need for raw materials and frequency of demand, which makes dealing with suppliers in the evaluation process, making the need for a process intervention in the process. Lighter on the other hand.
Many Iraqi companies suffer from problems related to suppliers, and cases of administrative and financial corruption are often raised regarding this type of contract and from this reality the necessity of researching this problem and trying to develop some solutions to reduce its impact on the companies' work, by using a method that works according to the standards adopted in Evaluation and selection of the supplier in the
... Show MorePseudomonas aeruginosa is an opportunistic pathogen responsible for serious infections. At least three different exopolysaccharides, alginate, polysaccharide synthesis locus (Psl), and pellicle exopolysaccharide (Pel) make up the biofilm matrix in P. aeruginosa . The effect of temperature on the biofilm formation and gene expression was examined by microtiter plate and real-time quantitative polymerase chain reaction (qRT-PCR). To be able to determine the effect of temperature on biofilm formation and gene expression of P. aeruginosa, 303 clinical and environmental samples were collected. Pseudomonas aeruginosa was isolated from 61 (20.1%) and 48 (15.8%) of the clinical and e
... Show MoreThe dangerous and potentially blinding condition known as Acanthamoeba keratitis is caused by free-living amoebae of the genus Acanthamoeba. The prevalence of AIDS patients and contact lens wearers has increased in recent years, making cannaeba infections more significant. It's interesting to note that, depending on the parasite, host, and environmental conditions, the pathways linked to Acanthamoeba pathogenesis are frequently extremely complex. Notwithstanding our progress in antibiotic therapy and supportive care, the prevalence of Acanthamoeba keratitis has not decreased