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Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia
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Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Teaching Hospital, Baghdad, Iraq, from September 2014 till June 2015. Their ages ranged between one day and 15 years. They presented with salt wasting, simple virilization, or pseudoprecocious puberty. Cytogenetic study was performed for cases with ambiguous genitalia. Molecular analysis of CYP21A2 gene was done using the CAH StripAssay (ViennaLab Diagnostics) for detection of 11 point mutations and >50% of large gene deletions/conversions. Mutations were found in 42 (67.7%) patients; 31 (50%) patients were homozygotes, 9 (14.5%) were heterozygotes, and 2 (3.2%) were compound heterozygotes with 3 mutations, while 20 (32.3%) patients had none of the tested mutations. The most frequently detected mutations were large gene deletions/conversions found in 12 (19.4%) patients, followed by I2Splice and Q318X in 8 (12.9%) patients each, I172N in 5 (8.1%) patients, and V281L in 4 (6.5%) patients. Del 8 bp, P453S, and R483P were each found in one (1.6%) and complex alleles were found in 2 (3.2%). Four point mutations (P30L, Cluster E6, L307 frameshift, and R356W) were not identified in any patient. In conclusion, gene deletions/conversions and 7 point mutations were recorded in varying proportions, the former being the commonest, generally similar to what was reported in regional countries.

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Publication Date
Wed Jan 01 2025
Journal Name
Aip Conference Proceedings
Analysis of wake effects induced by heavy ion tracks in titanium nitride ceramic
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Publication Date
Tue Dec 31 2019
Journal Name
Opcion
Analysis of Computer Textbook for the Second Intermediate Grade According to Digital Citizenship
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The research aims to build a list of digital citizenship axes and standards and indicators emanating from them, which should be included in the content of the computer textbook scheduled for second grade intermediate students in Iraq, and the analysis of the above mentioned book according to the same list using the descriptive analytical method ((method of content analysis)). The research community and its sample consisted of the content of the computer textbook scheduled for the second year intermediate students for the academic year 2018-2019, and the research tool was built in its initial form after reference to a set of specialized literature and previous studies that dealt with topics related to digital citizenship, and the authenticit

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Publication Date
Sat Jun 06 2020
Journal Name
Journal Of The College Of Education For Women
Schema Theory and Text- worlds: A Cognitive Stylistic Analysis of Selected Literary Texts
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Cognitive stylistics also well-known as cognitive poetics is a cognitive approach to language. This study aims at examining literary language by showing how Schema Theory and Text World Theory can be useful in the interpretation of literary texts. Further, the study attempts to uncover how readers can connect between the text world and the real world. Putting it differently, the study aims at showing how the interaction between ‘discourse world’ and ‘text world’. How readers can bring their own experience as well as their background knowledge to interact with the text and make interpretive connections.        Schema and text world theories are useful tools in cognitive stylistic studies. The reader's perception o

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Publication Date
Fri Nov 15 2024
Journal Name
Iraqi Journal Of Science
Spatial and Temporal Analysis of Severe Dust Storm in Iraq in May 2022
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Dust storms are a common ecological occurrence in many world‘s countries, mainly in dry and semi-dry parts. Dust storms tremendously influence human health, the environment, the climate, and numerous social aspects. In this paper, spatial and temporal analysis, metrological triggers, and trajectory, dust exporting areas of a severe dust storm that occurred in Iraq on May 16, 2022, were investigated. The dust storm's backward trajectory was determined using HYSPLIT model, which is then compared with MODIS and Meteosat satellite images. The weather is then analyzed using the NCEP/NCAR Reanalysis model, and the approximate area of these sources was determined using Landsat 8 satellite image classification method. The results revealed

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Publication Date
Thu Jun 16 2022
Journal Name
Al-khwarizmi Engineering Journal
Estimate and Analysis the Availability of Generator in Electric Power Plant Using ANN
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The large number of failure in electrical power plant leads to the sudden stopping of work. In some cases, the necessary reserve materials are not available for maintenance which leads to interrupt of power generation in the electrical power plant unit. The present study, deals with the determination of availability aspects of generator in unit 5 of Al-Dourra electric power plant. In order to evaluate this generator's availability performance, a wide range of studies have been conducted to gather accurate information at the level of detail considered suitable to achieve the availability analysis aim. The Weibull Distribution is used to perform the reliability analysis via Minitab 17, and Artificial Neural Networks (ANNs) by approaching o

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Publication Date
Wed Oct 09 2019
Journal Name
Engineering, Technology & Applied Science Research
Numerical Analysis of Segmental Post Tensioned Concrete Beams Exposed to High Fire Temperature
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The main objective of this study is to characterize the main factors which may affect the behavior of segmental prestressed concrete beams comprised of multi segments. The 3-D finite element program ABAQUS was utilized. The experimental work was conducted on twelve simply supported segmental prestressed concrete beams divided into three groups depending on the precast segments number. They all had an identical total length of 3150mm, but each had different segment numbers (9, 7, and 5 segments), in other words, different segment lengths. To simulate the genuine fire disasters, nine beams were exposed to high-temperature flame for one hour, the selected temperatures were 300°C (572°F), 500°C (932°F) and 700°C (1292°F) as recomm

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Publication Date
Wed May 27 2020
Journal Name
Acta Biologica Szegediensis
Phytochemical analysis, cytotoxicity and antioxidant activity of cuckoo pint (Arum maculatum) leaf extract
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Arum maculatum is traditionally used for the control of many diseases and illnesses such as kidney pain, liver injury, hemorrhoids. However, the detailed biomedical knowledge about this species is still lacking. This study reports on the bioactive components and the possible mechanisms underlying the antioxidant, anti-inflammatory and cytotoxic activity of A. maculatum leaf extract. Gas chromatography-mass spectrometry (GC-MS) was used for phytochemical analysis. Assay of 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide ) (MTT) was used to determine the cytotoxicity in the murine cell line L20B upon exposure to different extract concentrations for 24 h. Enzyme-linked immunosorbent assay (ELISA) was used to detect pro-in

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Publication Date
Fri Apr 01 2022
Journal Name
Baghdad Science Journal
Collection, Storage and Protein Extraction Method of Gingival Crevicular Fluid for Proteomic Analysis
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Gingival crevicular fluid (GCF) may reflect the events associated with orthodontic tooth movement. Attempts have been conducted to identify biomarkers reflecting optimum orthodontic force, unwanted sequallea (i.e. root resorption) and accelerated tooth movement. The aim of the present study is to find out a standardized GCF collection, storage and total protein extraction method from apparently healthy gingival sites with orthodontics that is compatible with further high-throughput proteomics. Eighteen patients who required extractions of both maxillary first premolars were recruited in this study. These teeth were randomly assigned to either heavy (225g) or light force (25g), and their site specific GCF was collected at baseline and aft

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Publication Date
Wed Jun 25 2014
Journal Name
Journal Of Petroleum Geology
SEQUENCE STRATIGRAPHIC ANALYSIS OF THE MID‐CRETACEOUS MISHRIF FORMATION, SOUTHERN MESOPOTAMIAN BASIN, IRAQ
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The middle Cenomanian – early Turonian Mishrif Formation, a major carbonate reservoir unit in southern Iraq, was studied using cuttings and core samples and wireline logs (gamma‐ray, density and sonic) from 66 wells at 15 oilfields. Depositional facies ranging from deep marine to tidal flat were recorded. Microfacies interpretations together with wireline log interpretations show that the formation is composed of transgressive and regressive hemicycles. The regressive hemicycles are interpreted to indicate the progradation of rudist lithosomes (highstand systems tract deposits) towards distal basinal locations such as the Kumait, Luhais and Abu Amood oilfield areas. Transgressive hemicycles (transgressive systems tract deposits)

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Publication Date
Mon Jan 01 2024
Journal Name
Aip Conference Proceedings
Modeling and analysis of thermal contrast based on LST algorithm for Baghdad city
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