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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 27 2026
Journal Name
Pharmacia
Inflammatory biomarker profile in optimal and suboptimal responder psoriasis patients treated with ustekinumab
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Psoriasis is a chronic autoimmune inflammatory skin condition characterized by uncontrolled keratinocyte proliferation and potential systemic manifestations. Its pathogenesis involves activation of both innate and adaptive immune responses, leading to an imbalance in inflammatory cytokines. Interleukin (IL)-12 and IL-23 are key cytokines in the pathophysiology of psoriasis and sustain chronic skin inflammation. Biologic therapies, such as ustekinumab (UST), have been developed to induce long-term remission in moderate-to-severe psoriasis. The objective of this study was to identify differences in serum levels of inflammatory biomarkers [erythrocyte sedimentation rate, high-sensitivity C-reactive protein (hs-CRP), IL-12, IL-17, IL-22, and IL

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Publication Date
Thu Jun 13 2024
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Association of the MDR1 Variants (rs2032582 and rs2032583) with Steroid Response in Iraqi Children with Idiopathic Nephrotic Syndrome
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Background: Several studies linked the development of steroid-resistant nephrotic syndrome (SRNS) to genetic variations in the multidrug resistance 1 (MDR1) gene, though a disparity in findings was underlined among children with different ethnic origins. Objective: This study examined the relationship between MDR1 variants (rs2032582 and rs2032583) and the risk of developing SRNS in Iraqi patients with idiopathic nephrotic syndrome (INS). Methods: This case-control study included children with steroid-sensitive INS (SSNS; n=30) and SRNS (n=30) from the Babylon Hospital for Maternity and Pediatrics. Sanger sequencing was used to determine the participants’ genotypes. Results: The rs2032582 genotypes and alleles were not associated

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Publication Date
Wed Oct 17 2018
Journal Name
Journal Of Economics And Administrative Sciences
The Use Of Some Parametric And Non parametric Methods For Analysis Of Factorial Experiments With Application
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summary

In this search, we examined the factorial experiments and the study of the significance of the main effects, the interaction of the factors and their simple effects by the F test (ANOVA) for analyze the data of the factorial experience. It is also known that the analysis of variance requires several assumptions to achieve them, Therefore, in case of violation of one of these conditions we conduct a transform to the data in order to match or achieve the conditions of analysis of variance, but it was noted that these transfers do not produce accurate results, so we resort to tests or non-parametric methods that work as a solution or alternative to the parametric tests , these method

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Publication Date
Thu May 02 2013
Journal Name
Journal Of Engineering
Experimental and numerical analysis of piled raft foundation with different length of piles under static loads
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In order to understand the effect of (length of pile / diameter of pile) ratio on the load carrying capacity and settlement reduction behavior of piled raft resting on loose sand, laboratory model tests were conducted on small-scale models. The parameters studied were the effect of pile length and the number of piles. The load settlement behavior obtained from the tests has been validated by using 3-D finite element in ABAQUS program, was adopted to understand the load carrying response of piled raft and settlement reduction. The results of experimental work show that the increase in (Lp/dp) ratio led to increase in load carrying capacity by piled raft from (19.75 to 29.35%), (14.18 to 28.87%) and (0 to 16.49%) , the maximum load carr

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Publication Date
Thu May 18 2023
Journal Name
Journal Of Engineering
Experimental and Numerical Analysis of Piled Raft Foundation with Different Length of Piles Under Static Loads
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In order to understand the effect of (length of pile / diameter of pile) ratio on the load carrying capacity and settlement reduction behavior of piled raft resting on loose sand, laboratory model tests were conducted on small-scale models. The parameters studied were the effect of pile length and the number of piles. The load settlement behavior obtained from the tests has been validated by using 3-D finite element in ABAQUS program, was adopted to understand the load carrying response of piled raft and settlement reduction. The results of experimental work show that the increase in (Lp/dp) ratio led to increase in load carrying capacity by piled raft from (19.75 to 29.35%), (14.18 to 28.87%) and (0 to 16.49%) , the maximum load carried

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Publication Date
Sat Feb 01 2020
Journal Name
Journal Of Engineering Science And Technology (jestec)
Analysis Of Sedimentation In Trunk Sewer With Laboratory Investigation Of Sewage Sediment Characteristics In Baghdad City
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Sediment accumulated in sewers is a major concern source as it induces numerous operational and environmental problems. For instance, during wet weather flow, the re-suspension of this sediment accompanied by the combined sewer overflow may cause huge pollutant load to the receiving water body. The characteristics of the sewer sediment are important as it shapes its behaviour and determines the extent of the pollution load. In this paper, an investigation of sewer sediment and its characterization is done for a case study in Baghdad city. Sediment depth covers more than 50% of the sewer cross-sectional area; several operational causes are comprised to cause this huge depths of sediment depositions. The testing and analysis of the s

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Publication Date
Wed Sep 01 2021
Journal Name
Baghdad Science Journal
Bioremediation Potential of Chlorella vulgaris and Nostoc paludosum on azo Dyes with Analysis of Metabolite Changes
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               Microalgae have been used widely in bioremediation processes to degrade or adsorb toxic dyes. Here, we evaluated the decolorization efficiency of Chlorella vulgaris and Nostoc paludosum against two toxic dyes, crystal violet (CV) and malachite green (MG). Furthermore, the effect of CV and MG dyes on the metabolic profiling of the studied algae has been investigated. The data showed that C. vulgaris was most efficient in decolorization of CV and MG: the highest percentage of decolorization was 93.55% in case of MG, while CV decolorization percentage was 62.98%. N. paludosum decolorized MG dye by 77.6%, and the decolorization percentage of CV was 35.1%. Metabolic profiling of

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Publication Date
Mon Aug 01 2016
Journal Name
Journal Of Engineering
Exploring the Factors Affecting the Elemental Cost Estimation with Relationship Analysis Using AHP
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Cost estimation is considered one of the important tasks in the construction projects management. The precise estimation of the construction cost affect on the success and quality of a construction project. Elemental estimation is considered a very important stage to the project team because it represents one of the key project elements. It helps in formulating the basis to strategies and execution plans for construction and engineering.  Elemental estimation, which in the early stage, estimates the construction costs depending on  . minimum details of the project so that it gives an indication for the initial design stage of a project. This paper studies the factors that affect the elemental cost estimation as well as the rela

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Publication Date
Tue Mar 27 2012
Journal Name
Bmc Blood Disorders
Molecular characterization of glucose-6-phosphate dehydrogenase deficient variants in Baghdad city - Iraq
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Abstract<sec><title>Background

Although G6PD deficiency is the most common genetically determined blood disorder among Iraqis, its molecular basis has only recently been studied among the Kurds in North Iraq, while studies focusing on Arabs in other parts of Iraq are still absent.

Methods

A total of 1810 apparently healthy adult male blood donors were randomly recruited from the national blood transfusion center in Baghdad. They were classified into G6PD deficient and non-deficient individuals based on the results of methemoglobin reduction test (MHRT), with confirmation of deficiency by subsequent enzyme assays. DNA from defi

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Publication Date
Mon Jun 01 2020
Journal Name
Annals Of Tropical Medicine And Public Health
Molecular Detection of High-Risk Human Papillomavirus Genotypes from Cervical Lesions in Baghdad
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Objective Using two complementary techniques of virus detection human papillomavirus (HPV)[capture of hybrids (CH) and polymerase chain reaction (PCR)], relate the cytological study and/or cervical biopsy with high-risk HPV (HPV-HR) genotypes presence, as well as relating their viral load (VL). Methods About 272 women, who presented most cell alterations compatible with lesions cervical HPV, which has been detected in all high risk by the CH method and HPV genotype detection by PCR. Results In 22% of the patients it was not detected HPV DNA. Genotype 16 and/or 18 was prevalent and was found in 33% of the 212 women studied, meanwhile, mixed infections were found by several genotypes in 25%. In as for the histological lesions found, in 61 pat

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