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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 Jun 01 2022
Journal Name
Baghdad Science Journal
Variable Selection Using aModified Gibbs Sampler Algorithm with Application on Rock Strength Dataset
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Variable selection is an essential and necessary task in the statistical modeling field. Several studies have triedto develop and standardize the process of variable selection, but it isdifficultto do so. The first question a researcher needs to ask himself/herself what are the most significant variables that should be used to describe a given dataset’s response. In thispaper, a new method for variable selection using Gibbs sampler techniqueshas beendeveloped.First, the model is defined, and the posterior distributions for all the parameters are derived.The new variable selection methodis tested usingfour simulation datasets. The new approachiscompared with some existingtechniques: Ordinary Least Squared (OLS), Least Absolute Shrinkage

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Publication Date
Fri Sep 30 2022
Journal Name
Journal Of Economics And Administrative Sciences
Semi Parametric Logistic Regression Model with the Outputs Representing Trapezoidal Intuitionistic Fuzzy Number
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In this paper, the fuzzy logic and the trapezoidal fuzzy intuitionistic number were presented, as well as some properties of the trapezoidal fuzzy intuitionistic number and semi- parametric logistic regression model when using the trapezoidal fuzzy intuitionistic number. The output variable represents the dependent variable sometimes cannot be determined in only two cases (response, non-response)or (success, failure) and more than two responses, especially in medical studies; therefore so, use a semi parametric logistic regression model with the output variable (dependent variable) representing a trapezoidal fuzzy intuitionistic number.

the model was estimated on simulati

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Publication Date
Thu Jan 30 2020
Journal Name
Neuroquantology
Electronic Transfers and (NLO) Properties Predicted by AB Initio Methods with Prove Experimentally
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Hartree-Fock (HF) method relies in the calculations of nonlinear optical properties (NLO) for benzoic acid molecule. Also, another theoretical study is conducted by using the TD-DFT Density Functional Theory through B3LYP/High Base Set 6-311++G (2d,2p) on Gaussian program09. Moreover, an experimental study has been done to obtain the electrons spectrum for benzoic acid with and without ethanol. While the experimental study is done by using UV/VIS. spectrophotometer. Energy gap values of electronic transition between HOMO and LUMO is obtained from theoretical and experimental results. Consequently, the theoretical result for determining the energy gap calculated from EHOMO-LUMO wasvery close to the results of UV / VIS. spectrum. A theoretica

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Publication Date
Wed Dec 23 2020
Journal Name
2020 International Conference On Advanced Science And Engineering (icoase)
A Comparative Study Using LZW with Wavelet or DCT for Compressing Color Images
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As a result of the significance of image compression in reducing the volume of data, the requirement for this compression permanently necessary; therefore, will be transferred more quickly using the communication channels and kept in less space in memory. In this study, an efficient compression system is suggested; it depends on using transform coding (Discrete Cosine Transform or bi-orthogonal (tap-9/7) wavelet transform) and LZW compression technique. The suggested scheme was applied to color and gray models then the transform coding is applied to decompose each color and gray sub-band individually. The quantization process is performed followed by LZW coding to compress the images. The suggested system was applied on a set of seven stand

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Publication Date
Mon Nov 22 2021
Journal Name
Nanomaterials
Melting Enhancement in a Triple-Tube Latent Heat Storage System with Sloped Fins
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Due to the potential cost saving and minimal temperature stratification, the energy storage based on phase-change materials (PCMs) can be a reliable approach for decoupling energy demand from immediate supply availability. However, due to their high heat resistance, these materials necessitate the introduction of enhancing additives, such as expanded surfaces and fins, to enable their deployment in more widespread thermal and energy storage applications. This study reports on how circular fins with staggered distribution and variable orientations can be employed for addressing the low thermal response rates in a PCM (Paraffin RT-35) triple-tube heat exchanger consisting of two heat-transfer fluids flow in opposites directions throug

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Publication Date
Tue Nov 01 2022
Journal Name
Environmental Research
Can electrocoagulation technology be integrated with wastewater treatment systems to improve treatment efficiency?
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Considerable amounts of domestic and industrial wastewater that should be treated before reuse are discharged into the environment annually. Electrocoagulation is an electrochemical technology in which electrical current is conducted through electrodes, it is mainly used to remove several types of wastewater pollutants, such as dyes, toxic materials, oil content, chemical oxygen demand, and salinity, individually or in combination with other processes. Electrocoagulation technology used in hybrid systems along with other technologies for wastewater treatment are reviewed in this work, and the articles reviewed herein were published from 2018 to 2021. Electrocoagulation is widely employed in integrated systems with other electrochemical tech

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Publication Date
Sun Nov 01 2020
Journal Name
2020 2nd Annual International Conference On Information And Sciences (aicis)
An Enhanced Multi-Objective Evolutionary Algorithm with Decomposition for Signed Community Detection Problem
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Publication Date
Wed Oct 01 2025
Journal Name
Journal Of Environmental Management
Induced electro-fenton process with a new electrochemical reactor design for tetracycline degradation
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Publication Date
Sun Jan 01 2023
Journal Name
Journal Of Indian Academy Of Oral Medicine And Radiology
Salivary biomarkers (Vitamin D, Calcium, and Estrogen Hormone) in postmenopausal women with osteoporosis
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Publication Date
Tue Nov 01 2022
Journal Name
Environmental Research
Can electrocoagulation technology be integrated with wastewater treatment systems to improve treatment efficiency?
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Scopus (84)
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