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.
To detect the amount of Rifampicin in bulk and medicinal dosage formulations, an accurate, and cost-effective UV spectrophotometric technique has been developed using the area under the peak to estimate the presence of Rifampicin. This range of wavelengths (300–356) nm was chosen. The method showed linearity in the 2-22 μg/mL range, with R2 being 0.9996. The developed method' linearity, detection limit, quantification limit, precision, repeatability, and accuracy were all statistically and experimentally validated. The suggested methodology can be used for routine quality control analysis of Rifampicin in pure form and in capsule dosage form, as demonstrated by the satisfactory recovery percentage results. This study explores the struct
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To detect the amount of rifampicin in bulk and medicinal dosage formulations, an accurate and costeffective UV spectrophotometric technique has been developed using the area under the peak to estimate the presence of rifampicin. This range of wavelengths (300–356 nm) was chosen. The method showed linearity in the 2–22 μg/mL range, with R2 being2 0.9996. The developed method’s linearity, detection limit, quantification limit, precision, repeatability, and accuracy were all statistically and experimentally validated. The suggested methodology can be used for routine quality control analysis of rifampicin in pure form and in capsule dosage form, as demonstrated by the satisfactory recovery percentage results. This study explores the str
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In this paper, the effective computational method (ECM) based on the standard monomial polynomial has been implemented to solve the nonlinear Jeffery-Hamel flow problem. Moreover, novel effective computational methods have been developed and suggested in this study by suitable base functions, namely Chebyshev, Bernstein, Legendre, and Hermite polynomials. The utilization of the base functions converts the nonlinear problem to a nonlinear algebraic system of equations, which is then resolved using the Mathematica®12 program. The development of effective computational methods (D-ECM) has been applied to solve the nonlinear Jeffery-Hamel flow problem, then a comparison between the methods has been shown. Furthermore, the maximum
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في هذا البحث، تم تنفيذ الطريقة الحسابية الفعالة (ECM) المستندة إلى متعددة الحدود القياسية الأحادية لحل مشكلة تدفق جيفري-هامل غير الخطية. علاوة على ذلك، تم تطوير واقتراح الطرق الحسابية الفعالة الجديدة في هذه الدراسة من خلال وظائف أساسية مناسبة وهي متعددات الحدود تشيبشيف، بيرنشتاين، ليجندر، هيرمت. يؤدي استخدام الدوال الأساسية إلى تحويل المسألة غير الخطية إلى نظام جبري غير خطي من المعادلات، والذي يتم حله بع
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The varied applications of polystyrene in various fields of life led to examining the cause of radiation influence on some rheological behavior of commercial Polystyrene (PS) solution in the chloroform (CHCl3) solvent. Polystyrene grains shape samples were irradiated using the radioactive element Cesium- 137 with (9 µci) activity for 10, 20, and 30 minutes. The viscosity of the polymer solution depends on the concentration and size (i.e. molecular weight) of the dissolved polymer. Experimental data showed that the radiation dose affected the value of viscosity (shear, relative, specific, and reduced). The viscosity value significantly reduced at 10 min radiation dose and when increasing the dose, the viscosity value increased
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The current research aimed to identify psychological stability and its relationship to university integration and spiritual intelligence among university students. The research sample consisted of (158) students from the College of Education - Al-Mustansiriya University.
A scale was applied: psychological stability, university integration, and spiritual intelligence, and by using the (Pearson) correlation coefficient, and the t-test, the results showed: the sample members enjoy psychological stability, university integration, and spiritual intelligence, and there is a positive, statistically significant correlation between the research variables, and the results resulted in some recommendations and proposals.
Poverty is defined as a low standard of living in the sense that a poor person can not afford a minimum standard of living. The phenomenon of poverty is one of the most serious problems that must be dealt with seriously. This phenomenon has persisted in Iraq for decades because of the harsh economic conditions and unstable security conditions due to the crises it has faced since 2013. This study requires much study and analysis. And rural areas as a special case. In this study, the researcher examined the poverty line as a criterion in estimating the poverty indicators, which include (poverty percentage H, poverty gap PG, poverty intensity PS), based on the continuous social and economic survey data for households in 2014. The ma
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Thyroid hemiagenesis (THA) is a rare congenital anomaly in which one lobe of thyroid gland fails to develop during embryological stage. Agenesis may be unilateral, total or isthmic. Left thyroid lobe is more commonly involved than right lobe in hemiagenesis. Agenesis of the isthmus was seen in 50% of cases. Left sided hemiagenesis is more common than right sided hemiagenesis with a Left to right ratio of 4:1. Clinically patients can be euthyroid, hypothyroid or hyperthyroid. Often it is diagnosed as an incidental finding during ultrasonography (USG) study of neck, which can easily diagnose this condition.
Actual incidence of THA is unknown; most cases are diagnosed in patients admitted for thyroid scan or thyroid surgery because
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Suicidal ideation is one of the most severe mental health issues faced by people all over the world. There are various risk factors involved that can lead to suicide. The most common & critical risk factors among them are depression, anxiety, social isolation and hopelessness. Early detection of these risk factors can help in preventing or reducing the number of suicides. Online social networking platforms like Twitter, Redditt and Facebook are becoming a new way for the people to express themselves freely without worrying about social stigma. This paper presents a methodology and experimentation using social media as a tool to analyse the suicidal ideation in a better way, thus helping in preventing the chances of being the victim o
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