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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 Apr 30 2024
Journal Name
Iraqi Journal Of Science
Synthesis and Characterization of some new heterocyclic derivatives from aromatic carbonyl ‎compounds and carboxylic acids with Evaluation some of them for biological activity
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     In this research investigation, a total of eighteen diverse tetra- and penta-lateral cyclic compounds were synthesized. These included 1,3,4-thiadiazole, thiazolidin-4-one (via an alternative method), 1,2,4-triazole, carbothioamide, thiazole-4-one, azetidin-2-one, and oxazole. The synthesis procedure entailed a sequence of reactions. The thiazolidine-4-one 1 was obtained by reaction p-aminobenzoic acid with thiosemicarbazide, followed by treatment with p-tolualdehyde to produce Schiff base 2. Reaction Schiff base 2 with mercaptoacetic acid in dry benzene was carried out to produce thiazolidine-4-one 3. In another synthesis pathway, the esterification of p-nitro benzoic acid with ethanol in the presence of sulfuric acid was

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Publication Date
Sat Feb 28 2026
Journal Name
Journal Of Administration And Economics
Using the Maximum Likelihood Method with a Suggested Weight to Estimate the Effect of Some Pollutants on the Tigris River- City of Kut
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The aim of this research is to use robust technique by trimming, as the analysis of maximum likelihood (ML) often fails in the case of outliers in the studied phenomenon. Where the (MLE) will lose its advantages because of the bad influence caused by the Outliers. In order to address this problem, new statistical methods have been developed so as not to be affected by the outliers. These methods have robustness or resistance. Therefore, maximum trimmed likelihood: (MTL) is a good alternative to achieve more results. Acceptability and analogies, but weights can be used to increase the efficiency of the resulting capacities and to increase the strength of the estimate using the maximum weighted trimmed likelihood (MWTL). In order to perform t

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Publication Date
Sun Mar 07 2010
Journal Name
Baghdad Science Journal
Synthesis, characterization and antimicrobial Studies of complexes of some metal ions with 5(2-hydroxy benzylidine) -2-thio ether -1, 3, 4-thiadiazole
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A new series of Fe (III) , Co (II) , Ni (II) and Cu (II) complexes of the Schiff base, 5 (2-hydroxy benzylidine) -2-thio ether -1, 3, 4-thiadiazole were prepared and characterized .The imine behaves as a bidentate. The nature of bonding and the stereochemistry of the complexes were deduced from metal analyses, infrared, electronic spectra,magnetic susceptibility and conductivity measurements, an octahedral geometry was suggested for all complexes except the copper complex has a square planar geometry .preliminary in vitro tests for antimicrobial activity show that all the prepared compounds except iron complex display good activity to gram positive Staphelococcus aures and gram negative Escherchia coli.

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Publication Date
Tue Jan 01 2019
Journal Name
Energy Procedia
Improvement the Superconducting properties of TlBa2 Ca2 Cu3xNix O 9-δ superconducting compound by partial substitution of copper with nickel oxide on the
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Publication Date
Sun Apr 16 2017
Journal Name
Tikrit Journal For Dental Sciences
Evaluation of Apical Transportation and Curve Straightening of Curved Root Canals after Preparation with Different Nickel - Titanium Rotary Systems (Comparative in Vitro Study)
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The goals of endodontic preparation were to shape and clean the space of the root canal and remove microorganisms, affected dentin and pulp, the apical foramen and the canal curve should be protected from being transported during endodontic canal preparation. The aim of this study was to evaluate the curve straightening of curved root canals and apical transportation after preparation with four rotary systems. Forty mesial roots of the lower 1st molars teeth only the mesiobuccal canals were used, these roots were immersed into cold clear acrylic , the teeth roots divided into four groups according to rotary system used for preparation of the canals (ten roots for each group):. group I: ProTaper Next rotary system, group II: IRaCe Plus rotar

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Publication Date
Mon Mar 01 2021
Journal Name
Journal Of Dental Sciences
Evaluation of the efficacy of lycopene gel compared with minocycline hydrochloride microspheres as an adjunct to nonsurgical periodontal treatment: A randomised clinical trial
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Publication Date
Tue Jan 01 2019
Journal Name
Aip Conference Proceedings
Studying the partial substitution of barium with cadmium oxide and its effect on the electrical and structural properties of HgBa2Ca2Cu3O8+δ superconducting compound
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Publication Date
Sun Jan 01 2017
Journal Name
International Journal Of Chem Tech Research
Synthesis of New Selective Electrodes for the Determination of Metronidazole Benzoate (MNZB) Based on a Molecularly Imprinted Polymer Combined With Poly Vinyl Chloride
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Publication Date
Tue May 17 2016
Journal Name
International Journal Of Current Research
SYNTHESIS, SPECTRAL AND ANTIMICROBIALACTIVITY OF MIXED LIGAND COMPLEXES OF Co(II), Ni(II), Cu(II) and Zn(II) WITH 4-AMINOANTIPYRINE AND TRIBUTYLPHOSPHINE
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Complexes of Co(II),Ni(II),Cu(II)and Zn(II) with mixed ligand of 4 tributylphosphine (PBu3) were prepared in aqueous ethanol with (1:2:2) (M:L:PBu3)The prepared

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Publication Date
Sun Dec 01 2019
Journal Name
Restaurant Business
The role of using fair value on relevance and representation faithfulness of accounting information in accordance with the common conceptual framework (FASB-IASB)
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The global trend towards the use of fair value accounting is increasing, so the current study aimed to maximize the impact of fair value application on achieving relevance and representation faithfulness of accounting information in accordance with the common conceptual framework. To achieve the objective of this study, the researcher has determined in the theoretical framework the relationship of fair value with the characteristics of relevance and representation faithfulness of accounting information and the extent of achieving these characteristics, as well as conducting a field study by preparing a questionnaire distributed to a sample of academics (50) and auditors (50) with a total number of selected participants (100) of acad

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