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.
A new simple and sensitive spectrophotometric method for the determination of trace amount of Co(II) in the ethanol absolute solution have been developed. The method is based on the reaction of Co(II) with ethyl cyano(2-methyl carboxylate phenyl azo acetate) (ECA) in acid medium of hydrochloric acid (0.1 M) givining maximum absorbance at ((λmax = 656 nm). Beer's law is obeyed over the concentration range (5-60) (μg / ml) with molar absorptivity of (1.5263 × 103 L mol-1 cm-1) and correlation coefficient (0.9995). The precision (RSD% ˂ 1%). The stoichiometry of complex was confirmed by Job's method which indicated the ratio of metal to reagent is (2:1). The studied effect of interference elements Zn(II), Cu(II), Na(I), K(I), Ca(II) and Mg
... Show MoreBackground: The patient's vital signs must stay stable pre a pulmonary function test since the approach demands the patient to breathe slowly and deeply and exhale quickly. However, events that cause variations in normal vital signs may impact the patient. Many strategies can be utilized to stabilize vital signs, including music treatment. The purpose of this study is to compare the effectiveness of music therapy on the vital signs of client's pre a pulmonary function test. Methods: An experimental design study with an application (pre-test, post-test), to determine the effectiveness of music therapy for clients pre pulmonary function test for 106 clients in Al-Diwaniyah, Al-Shamiya, and Al- Hamza public hospitals In Iraq. Parti
... Show MoreIn this paper, a new third kind Chebyshev wavelets operational matrix of derivative is presented, then the operational matrix of derivative is applied for solving optimal control problems using, third kind Chebyshev wavelets expansions. The proposed method consists of reducing the linear system of optimal control problem into a system of algebraic equations, by expanding the state variables, as a series in terms of third kind Chebyshev wavelets with unknown coefficients. Example to illustrate the effectiveness of the method has been presented.
Objectives: The study aims at identifying the nurses’ knowledge about peritoneal dialysis complications, to
construct an education program for nurses in peritoneal dialysis units, to determine the effectiveness of the
education program upon the nurses' knowledge about complications of peritoneal dialysis, and to identify the
relationship between the nurses’ knowledge and their demographic characteristics of level of education and
years of experience.
Methodology: A quasi-experimentai study was carried out at the peritoneal dialysis units of Baghdad teaching
hospitals, from April 2004 to April 2006.
٨ purposive sample of (50) nurse was selected from Baghdad teaching hospitals. These nurses working at the
perit
Background: Considering the antioxidant, anti-inflammatory, and antimicrobial properties of green tea, this study aimed to evaluate the histopathological effect of the sulcular irrigation of green tea extract in the treatment of experimental gingivitis in rabbit.
Materials and methods: For this experimental study, 45 male rabbits, separated in two groups, control non- irrigated group (5rabbits) and study group (40 rabbits), gingivitis induced by ligatures was packed subgingivally in the lower right central incisors of the experimental group for seven days. Then, the animals were randomly designated to two irrigated groups (20 rabbits
... Show MorePseudomonas aerogenosa lipopolysaccharidewas extracted by hot phenol method and purified by gel filtration method using the Sephadex G-200 gel and detected by the limulus amebocyt lysate (EU/ml 0.03)(Wako Chemicals USA, Inc.). The inhibitory effect of partially purified LPS on Candida glabrata yeast was studied in a microdilution method. This study found that LPS has an inhibitory effect on Candida glabrata with the lower concentrations. The inhibitory effect of LPS which treated with heating was studied under boiling and wet heat effect. The toxicity of LPS on Candida glabrata was not affected when treated with heating LPS and the results were similar to those found in untreated LPS
Reduce the required time for measuring the permeability of clayey soils by using new manufactured cell
سرطان البنكرياس هو مرض ذو معدل وفيات مرتفع، ولا يزال التشخيص المبكر لسرطان البنكرياس يمثل تحديًا. يظل معدل البقاء النسبي لمدة 5 سنوات أقل من 8%، والاستراتيجيات العلاجية غير فعالة في زيادة معدلات بقاء المريض على قيد الحياة. في خلايا سرطان البنكرياس، ارتبطت مقاومة العلاج بالتغيرات الجينية التي تؤدي إلى ظهور مسارات خلوية شاذة؛ ولذلك، هناك ما يبرر ايجاد استراتيجيات جديدة لعلاج هذا المرض. هنا، سعينا لاستكشاف
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