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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
Tue Jan 16 2018
Journal Name
International Journal Of Science And Research (ijsr)
The Effect of Woods' Strategy on Achieving of Second Grade Students in Physics
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: The aim of this research is to investigate the impact of Woods ' strategy in collecting second graders average for physics. To achieve the objective researcher coined the following hypothesis: there was no statistically significant difference at a level (0.05) between the average grades of the experimental group students studying physics as Woods and strategy between the average control group students who are studying the same article in the regular way. Test collection. Search sample amounted to (83) students and (42) students for the experimental group, and (41) students for the control group. Students were subjected to test experiment is composed of (30) after the completion of the experiment. And use appropriate statistical methods re

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Publication Date
Sun Jun 01 2008
Journal Name
Baghdad Science Journal
Effect of Nitrogen Fertilizer and Plant Density on Yield and Growth of Sunflower
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The effect of nitrogen fertilizer and the planting distance on growth and yield of the sunflower cultivar (Taka) was investigated. The experiment was conducted in the field using five nitrogen fertilizer levels (0, 50, 100, 150, 200) kg/donum and three planting distances (10, 20, 30) cm/plant. The experiment design was split-plot by using RCBD with four replicates. The level of fertilizer as the main plot, while the planting distance as the sub plot. Plant high and yield components were measured. Results indicated that using 200 kg/donum of nitrogen and 30 cm/plant of planting distance gave the highest rate of 1000 seeds weight and the number of seeds/ head. While using 200 kg/donum of nitrogen fertilizer with 10 cm/plant of planting dista

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Publication Date
Sun Jun 06 2010
Journal Name
Baghdad Science Journal
Antibacterial Activities of Volatile oils from mentha Piperia Against Growth of Pathogenic Bacteria
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The study included the extraction of volatile oil from Mentha piperita which was 1.3 % in the leaves and flowers . Volatile oil of the Mentha piperita leaves had special aromatic odour, pale yellow color, slightly pungent taste . The specific gravity and refractive index were (0.9794) and ( 1.464) respectively. The inhibition activity of the Mentha piperita Volatile oil extracts were studied on some pathogenic microorganisms like Staphylococcus aureus, Salmonella typhi, Escherichia coli, Proteus sp, and Klebsiella pneumoniae . The result showed that the volatile oil had an inhibition effect on the growth of all microorganisms, and it gave the higher inhibition effect on the growth of S. aureus in which the inhibition zone reached to 2

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Publication Date
Mon Jan 01 2018
Journal Name
International Journal Of Agricultural And Statistical Sciences
Response of broad bean growth and early yield to exposure periods of vernalization
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Publication Date
Wed Dec 31 2025
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Effect of Temperature and Frequency on the Dielectric Properties of PVC/MnCl2 Composite
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Publication Date
Fri Feb 01 2019
Journal Name
Indian Journal Of Natural Sciences
Design and Test of Electrochemistry of Electrodes Catalysis for an Alkaline Fuel Cell
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Publication Date
Sun May 12 2019
Journal Name
Al-khwarizmi Engineering Journal
Effect of Quenching Media Variations on the Mechanical Behavior of Martensitic Stainless Steel
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The purpose of this study is designate quenching and tempering heat treatment by using Taguchi technique to determine optimal factors of heat treatment (austenitizing temperature, percentage of nanoparticles, type of base media, nanoparticles type and soaking time) for increasing hardness, wear rate and impact energy properties of 420 martensitic stainless steel. An (L18) orthogonal array was chosen for the design of experiment. The optimum process parameters were determined by using signal-to-noise ratio (larger is better) criterion for hardness and impact energy while (Smaller is better) criterion was for the wear rate. The importance levels of process parameters that effect on hardness, wear rate and impact energy propertie

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Publication Date
Sun Nov 01 2020
Journal Name
Iraqi Journal Of Laser
The Effect of the Concentration of Colloidal Silver Nanoparticles on Optical Limiting Reliability
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The effect of the concentration of the colloidal nanomaterial on their optical limiting behavior is reported in this paper. The colloids of sliver nanoparticles in deionized water were chemically prepared for the two concentrations (31 ppm and 11ppm). Two cw lasers (473 nm Blue DPSS laser and 532 nm Nd:YAG laser) are used to compare the optical limiting performance for the samples. UV–visible spectrophotometer, transmission electron microscope (TEM) and Fourier Transformation Infrared Spectrometer (FTIR) were used to obtain the characteristics of the sample. The nonlinear refractive index was calculated to be in the order of 10-9 cm2/W. The results demonstrate that the observed limiting response is significant for 532nm. In addition, t

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Publication Date
Mon Jan 09 2012
Journal Name
Воронеж. гос. ун-т
STRUCTURAL-SEMANTIC FEATURES OF ONE-COMPONENT SENTENCES IN THE PLAYS OF A.N. OSTROVSKY
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Publication Date
Sat Oct 01 2016
Journal Name
Journal Of The College Of Basic Education
Some Thermodynmic Properties of binary Mixtures of Alcohol isomers and Sulfolane at 298.15K
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The refractive indices, nD densities 𝜌, and viscosities  of binary mixtures of sulfolane + n -butanol + sec- butanol + iso- butanol + tert – butanol + n-propanol and iso- propanol were measured at 298.15K. Form experimental data, excess molar volum VE , excess molar refractivity ∆nD, excess molar viscosity  E and excess molar Gibbs free energy of activation of viscous flow G *E were calculated. From n-propanol – sulfolane and iso- propanol sulfolane mixtures showed negative ∆nD, n-butanol – sulfolane, sec-butanal – sulfolane, iso-butanol – sulfolane and tert- butanol sulfolane , nD was positive over the whole mole fraction rang , while VE ,  E and G *E show a negative deviation. The

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