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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 Oct 02 2024
Journal Name
International Development Planning Review
EVALUATING THE EFFECTIVE CREATIVE LEADERSHIP ROLE OF THE DEAN AND HEADS OF SCIENTIFIC DEPARTMENTS IN THE COLLEGE OF PHYSICAL EDUCATION AND SPORTS SCIENCES AL-MUSTANSIRIYAUNIVERSITY
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Publication Date
Sun Dec 27 2020
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The use of electronic applications in the preparation of operational budgets: An applied research in one of the private sector companies for dairy industry / Baghdad
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A revolution called information revolution has recently invaded the world. It is Currently considered one of the most important properties of development to the countries of the world The criteria provided by computers such as accuracy, speed, time saving Storage and restore have led them to be widely used in economy, industry, agriculture, communications, etc., as well as being the major finder of reengineering the operations of innovation. The use of computers in the preparation of budgets will lead to achieve accuracy. Since, the operation draws upon the statistic and quantity estimations about budget items, the computerized balance sheet may save time and effort of preparing mathematical equations annually. According to the problem o

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Publication Date
Fri Nov 01 2019
Journal Name
Iop Conference Series: Earth And Environmental Science
The comparison of several methods for calculating the degree of heritability and calculating the number of genes in maize (Zea mays L.). I. Agronomic traits
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Abstract<p>The objective of present study was to compare of several methods for estimating the degree of heritability and calculating the number of genes using generation mean analysis of maize (<italic>Zea mays</italic>L.). The experiment was conducted at the field of Field Crop Dept. College of Agric / Univ. of Baghdad, for many seasons, spring and fall seasons 2009, 2010, spring 2011 and fall 2013.Six diverse inbred lines were crossed to produce F1,F2,BC1 and BC2 for four superior crosses.Broad-sense and narrow sense heritability estimates based on variance of different generations. The results showed that the four formulas used to estimate the heritability were different in estimating the values o</p> ... Show More
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Publication Date
Sun Jan 27 2019
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The application of the dimensions of TQM and its impact in enhancing the satisfaction of the taxpayers: Applied Study in the General Commission for Taxes
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The concept of TQM is based on one of the concepts that combine administrative and innovative methods. The aim of the research is to demonstrate the dimensions of TQM in enhancing the satisfaction of the taxpayers through a survey of a sample of officials in the General Authority for Taxation and 50 officials. In the collection of data and information, and the results were analyzed using the SPSS program to find the most important compounds and factors in he method of analysis.

The research problem was represented by the non-application of the General Authority for Taxation to the entrances and modern practices in the administrative work. The results of some of the complications that accompany the tax accounting process, which af

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Publication Date
Thu Jun 30 2016
Journal Name
Al-kindy College Medical Journal
Knowledge, attitude & practice of pregnant women about the role of periconceptional use of folic acid in three primary health care centers in Baghdad / AL-Russafa
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Background: Folic acid (vitamin B9) is one of the important vitamins that are necessary for growth and development of the embryo and preventing the occurrence of congenital malformations which are one of the important health problems in the developing countries and the world as it has a direct effect on the affected babies, their families and the community. It affects an estimated 3% of newborns worldwide.Periconceptional supplementation with folic acid (before conception and during the first 12 weeks of pregnancy) was found to decrease many important types of these anomalies. Objectives: The aim of this study is to assess knowledge, attitude and practice of periconceptional use of folic acid in pregnant women who are attending antenatal

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Publication Date
Sun Jan 07 2024
Journal Name
Migration Letters
The Effect Of Preventive Physical Exercises Supported By Collagen Supplements And Vitamin D In Improving Some Of The Physical And Skill Abilities Of Handball Players
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The purpose of this paper is to preparing preventive exercises supported by collagen supplements and vitamin D for handball players, and identify the effect of preventive physical exercises supported by collagen supplements and vitamin D on some physical and skill abilities of handball players. The researchers used the experimental method and designed two groups, one experimental and the other control, with both pre- and post-tests, to suit the nature of the research. The research community was selected from handball players (specialized school players), numbering (14), and they were divided into two groups, each group numbering (7) players. One of the most important results reached by the researcher is that: The exercises prepared by the r

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Publication Date
Wed Feb 15 2017
Journal Name
International Journal Of Poultry Science
Effects of Ionized Water on Certain Egg Quality Traits and the Levels of Proteins and Enzymes in the Blood of the Japanese Quail Coturnix japonica
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Objective: This experiment was conducted to study the effects of ionized water on certain egg quality traits and the levels of proteins and enzymes in the blood of the Japanese quail Coturnix japonica . Materials and Methods: One hundred 42-day-old quail were randomly distributed among five treatment groups with four replicates for each group. The following treatments were used: T1 (control): The birds were provided normal water, T2: The birds were provided alkaline water (pH = 8), T3: The birds were provided alkaline water (pH = 9), T4: The birds were provided acidic water (pH = 6) and T5: The birds were provided acidic water (pH = 5). A Complete Randomized Design (CRD) was used to investigate the effects of the studied treatments on diffe

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Publication Date
Sat Dec 01 2012
Journal Name
Journal Of Economics And Administrative Sciences
Business incubators the entrance of organizations to shift towards pioneering performance a study by a number of employees of the technical education organizations in mosul
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     The importance of this research is due to its importance goals, Which are about the attempt of researchers to investigate the probability of depending on businesses, environments to transform organizations, performance in away that enhance the leading  role of organizations  in their environments , and through views of a number of the staff working in the foundation of technical institutes in Mosul.  .

     After deciding the methodology of the study that ,in one hand ,performs the goals of the study , and achieving a suitable theoretical framework to present the concepts of businesses, environments and the leadin

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Publication Date
Mon Oct 22 2018
Journal Name
Journal Of Economics And Administrative Sciences
The role of organizational learning ability to improve the performance of hospital organizations under the accumulation of intellectual capital Study hospital enterprise sector in Algeria
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        This study aims to identify the amount of the effect of the ability to learn the individuals within the organization on the accumulation of intellectual capital and the role it plays in improving the performance of the organization, and to achieve that, the researcher designed a questionnaire to collect data and information from the surveyed respondents and analyzed using SPSS software, the study concluded after testing hypotheses to have a direct impact between the capacity for organizational learning and the accumulation of intellectual capital, which in turn affects the accumulation of intellectual capital as a positive and direct impact on the performance of the organization, al

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Crossref
Publication Date
Mon Jul 04 2022
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The role of agricultural insurance in the prevention of financing risks in the form of slam : "An Empirical Study on Shikan Insurance and Reinsurance Company
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The aim of this research is to introduce agricultural insurance, to define financing in the form of salam and the role of agricultural insurance in the prevention of risks to agricultural finance operations in the form of salam by verifying the hypotheses through which to reach the results, including the imposition of risks for agricultural finance in the form of salam, The study of agricultural finance in the form of salm, the deductive approach to the development of the problem of research and hypotheses, and the inductive method to extrapolate the results through analysis and brother The researcher concluded that agricultural insurance works to bridge the risks facing agricultural finance in the form of the ladder in cases of

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