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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.

Scopus
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Publication Date
Sun Jan 01 2023
Journal Name
Aip Conference Proceedings
The study of the literature review of hybrid classification approaches to credit scoring
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Publication Date
Sat Sep 20 2025
Journal Name
Journal Of The College Of Basic Education
Effect of amino acids (Bcaa) on some physical abilities of advanced futsal players
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Publication Date
Sun Jan 01 2023
Journal Name
Aip Conference Proceedings
Study the effect of curved edges on the aerodynamics performance of suction slot
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Publication Date
Sun Sep 07 2008
Journal Name
Baghdad Science Journal
Effect of Low Level Acute of Aflatoxin on Performance in Faw- Bro Broiler
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This study was conducted in the Poultry farm of the animal during the Production department, Iraqi during the (Ministry of Science and Technology) period from 3-9-2001 to 8-4-2002. The objectives of this study were to evaluate the effect of low – level chronic aflatoxicosis on performance (body weight, feed conversion efficiency and mortality), Serum biochemistry and activity of some enzymes (GOT,GPT, ALKP, LDH). A total of 300 male chicks of broiler breeder (Faw–Bro) were used. Chicks at day 1 of age were fed diets contaminated with aflatoxine at levels of 0, 0.3, 0.6, 0.9, 1.2, and 1.5 the feeding period were extended to 8 weeks. The data were subjected to analysis of variance by the completely randomized design. The results showed

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Crossref
Publication Date
Thu Jan 30 2020
Journal Name
Journal Of Engineering
Influence of Additives on Permanent Deformation and Resilient Modulus of Recycled Asphalt Concrete
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Tests were performed on asphalt concrete specimens with (101.6 mm in diameter and 101.6 mm in height), and the results were implemented for calculating permanent deformation and resilient modulus under repeated compressive stress with different levels of stresses (0.068, 0.138 and 0.206) MPa at 40 ºC. Two types of additives namely (carbon black-asphalt) and (SBR-asphalt) were tried as rejuvenators with three percentages of (0.5, 1 and 1.5) % by weight of asphalt cement along with two ratios of AC (1 and 2) % have been implemented as rejuvenator and blended with the reclaimed asphalt concrete. Aged materials were obtained from the site. 100% Reclaimed Asphalt Pavement material from the reclaimed mixture is implemented. A

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Crossref
Publication Date
Sun Mar 01 2009
Journal Name
Baghdad Science Journal
The Effect of Sodium Propionate on Microorganism and Self life of Laboratory Biscuit
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This study has been conducted to examin the effect of sodium propionate at different level of 0.03,0.06,0.10% on the number of bacteria and mold and to extend the storage life of laboratory processed biscuit. The results indicated that the use of 0.10% sodium propionate prolonged the storage peroid until the third month, while the use of 0.20% sodium propionate showed no growth of bacteria up to six month of storage, three types of bacteria has been isolated from processed biscuit, namely, Staphylococcus aureus, Bacillus cereus, Esherichia coli. using 0.10% sodium propionate showed no growth of mold up to three month of storage ,while using of 0.15 % and 0.20% sodium propionate prevent the growth

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Crossref
Publication Date
Sun Dec 06 2009
Journal Name
Baghdad Science Journal
Synthesis of new poly diimides from reaction of poly acryloyl chloride and diamides.
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Five N-substituted poly diimides were prepared by two steps. First step was included the preparation of five N-substituted diamides by reaction of adipoyl chloride with different amines .The second step was involved reaction of diamides with poly acryloyl chloride to obtain five new poly diimides having different physical properties which may used in different applications.

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Crossref
Publication Date
Sun Feb 10 2019
Journal Name
Journal Of The College Of Education For Women
Building the Test of Drawing Skill for the Female students of Kindergartens' Department
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The research issue and its importance concentrate on the importance of choosing and
preparing the kindergarten's teacher educationally ,psychologically and artistically ,and other
aspects because of their need for several skills such as the drawing skill for kindergarten
curriculums include a various artistic experiences and activities as well as for the drawing
importance for the child .And from this, the research goals raise from to prepare a test that
measures the drawing skill for kindergarten students and measure the drawing skill in all four
kindergarten students at the kindergarten department and recognize the differences level for
these students . In order to achieve the first goal in the research ,the resear

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Publication Date
Thu Sep 03 2020
Journal Name
Al-kindy College Medical Journal
Unusual Location of Giant Cell Tumor of the Tendon Sheath .. A Case Report
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Locking of the knee is a one of the commonest orthopedic outpatient presentation. This patient usually need magnetic resonance imaging (MRI) when there is suspected lesion in the soft tissue clinically. Meniscal tears is the first differential diagnosis when accompany with painful knee. (1, 2)
Giant cell tumor (GCT) is benign a localized nodular tenosynovitis often occur in the tendon sheath , Mostly involve the hand tendons in middle age group between 30 and 50 years old , female affect more than male.(3,4) The WHO defines two well-known kinds of giant cell tumor: (1) pigmented villonodular synovitis ( generalized type), which mainly involve the joints of the lower limb and (2) giant cell tumor of the tendon sheath ( localized type)

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Crossref
Publication Date
Thu Mar 01 2018
Journal Name
Journal Of Oral And Maxillofacial Surgery, Medicine, And Pathology
Assessment of the extracapsular dissection of the benign parotid tumors, extending the literature
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