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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
Mon May 01 2023
Journal Name
Wiadomości Lekarskie Medical Advances
EVALUATION OF VEST-OVER-PANT TECHNIQUE IN THE TREATMENT OF POST-HYPOSPADIAS URETHROCUTANEOUS FISTULA
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The aim: In this study, we present and evaluate the vest-over-pants technique as a simple way to correct urethrocutaneous fistulas after hypospadias. Materials and methods: Between October 2018 and June 2020, twenty male patients aged 5 to 20 years came to us with post hypospadias repair fistula, these patients underwent vest-over-pant repair of their fistula. The size of fistula was ranging between 2.5-5 mm. The distribution of fistula was coronal (3 patients), distal penile (9 patients), midshaft (2 patients) and proximal penile (6 patients). In 14 patients there were single fistula and 6 patients had more than one fistula. Eleven of patients were exposed to a previous failed fistula repair procedure. Results: Six months after the operati

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Publication Date
Sun Jun 30 2019
Journal Name
Journal Of The College Of Education For Women
The poetry of the sensory image of Ibn Dannir al-Musli poems (B627 H.)
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تُعبّرُ الصُّورةُ الحسَّيةُ في شعرِ ابن دُنَينير الموصليِّ([i]) في بنيتها عن تجربةِ الشاعرِ الوجدانيةِ والذهنيةِ, وأفكارهِ ومشاعرِهِ؛ فيصوغُ بها مَفهومًا جديدًا للواقعِ الماديِّ والمعنويِّ، الذي يتسمُ بالوضوحِ أولاً، وبالقرْبِ من الذهنِ ثانيًا، للربْطِ بين الحواسِّ الإنسانيةِ والمعاني الذهنيةِ، لِتُقَدِّمَ الصُّورةُ الحسيَّةُ إلى ((المتلقي صُورًا مرئيةً، يُعادُ تشكيلُها سياق

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Publication Date
Sun Jun 01 2014
Journal Name
Baghdad Science Journal
Determination of total phenol, antioxidant and antimicrobial activities of Avena sativa and Ocimum basilicum
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The present study investigated the total content of phenolic compounds, antioxidant and antimicrobial activities of water extracts oat (Avena sativa) and basil (Ocimum basilicum), medicinal plants. The Folin-ciocalteu reagent assay was used to estimate the total phenolic content of plants extract. The antioxidant capacity of the plants extract was tested by ferric reducing/antioxidant power Assay (FRAP) and ferric reducing scavenging activity using DPPH method, and the antimicrobial activity was measured against [Staphylococcus epidermidis; Staphylococcus aureus; Proteus spp.; Klebsiella spp.; Escherichia coli; Candida albicans] as tester strains. The total phenolic content of Avena sativa and Ocimum basilicum extracts revealed that the

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Publication Date
Fri Jan 11 2019
Journal Name
Iraqi Journal Of Physics
Study of starch, sugar blending effect on the biodegradability of (PVA) for packaging applications
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PVA, Starch/PVA, and Starch/PVA/sugar samples of different
concentrations (10, 20, 30 and 40 % wt/wt) were prepared by casting
method. DSC analysis was carried; the results showed only one glass
transition temperature (Tg) for the samples involved, which suggest
that starch/PVA and starch/PVA/sugar blends are miscible. The
miscibility is attributed to the hydrogen bonds between PVA and
starch. This is in a good agreement with (FTIR) results. Tg and Tm
decrease with starch and sugar content compared with that for
(PVA). Systematic decrease in ultimate strength, due to starch and
sugar ratio increase, is attributed to (PVA), which has more hydroxyl
groups that made its ultimate strength higher than that for

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Publication Date
Sun Jun 01 2014
Journal Name
Baghdad Science Journal
Study of Some Physical and Chemical Properties of Staphylolysin Enzyme purified from Pseudomonas aeruginosa
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Some of the characters of the Staphylolysin A and D enzymes purified from Pseudomonas aeruginosa P16 and P5 respectively were studied, the molecular weights of Staphylolysin A and D were 20.417 kilo dalton and 23.988 kilo Dalton respectively by SDS- polyacryl amide gel electrophoresis. The optimum pH for staphylolysin A activity was found to be 8 which gives higher activity reaches 150 unit/ml, and for enzyme stability was 7.5-8.5 in which the enzyme nearly retained its full activity, while it was 9.5 for staphylolysin D that gives higher activity of 16 unit/ml,and 8.5-9.5 for enzyme stability in which the enzyme nearly retained its full activity, Maximum activity of two enzymes was obtained at 40C in which the specific activity for st

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Publication Date
Thu Jul 25 2019
Journal Name
The Eurasia Proceedings Of Science Technology Engineering And Mathematics
Impact of the Chemical Mutagenesis on Biomass and Productivity of some Micro Green Algae
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The Eurasia Proceedings of Science Technology Engineering and Mathematics | Volume: 6

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Publication Date
Fri Jun 29 2018
Journal Name
Journal Of The College Of Education For Women
THE PROBLEM RELATED TO WORKING IN KINDERGARTEN FROM THE POINT OF VIEW OF TEACHERS
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           kindergarten teacher is one of the fundamental pillars upon which the kindergarten environment so that exposure to a number of problems that could affect its functioning in addition to any deficiencies in this environment leads to deprive a child of some activities and acquisition of concepts so the researcher studying the problems of working in kindergartens from the perspective of the parameters, so the researcher based measuring instrument for labour problems of (30) search sample was paragraph (50) parameter that was chosen at random and have been extracted Sincerity and strength tool researcher used statistical methods and discriminatory (Pearson correlation coefficient, t

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Publication Date
Wed Jan 02 2019
Journal Name
Journal Of The College Of Languages (jcl)
"The wisdom of the Abraham son of Izra": "החכמה אצל המשורר אברהם בן עזרא"
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Abraham son of Izra, the poet, the philosopher, the grammarian, and the Turah exegesis, is considered one of the famous poets in the era of Islamic reign in Spain which is called the "Golden Era". He was taught all types of teaching which was rich in Jewish literary products. He learned Arabic and studied Arabic language and literature. He travelled a lot, and made tours within Spanish places, and even reached the North of Africa. He preferred living with Muslim rulers in the south of Spain, like the rest of the Jews who emigrated from the north of Spain to the South in search for freedom and to participate in higher positions of the Islamic Palace. He was influenced by Arabic culture, and even translated "Th

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Publication Date
Tue Dec 15 2020
Journal Name
Al-academy
Diversity of Temporal Workings in the Narrative of the Feature Film: عباس فاضل عبد
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  Time represented a significant element in building any film story, despite its inability to express itself, but by employing the rest of the elements of the cinematic mediator language to express it. Time factor is present and manifested in all the details of the picture, and the more important is its presence in the event narration process. The narration totally depends on temporal structure in which it appears, which makes time a dominating element in the development of the narrative shapes and patterns. The narrative propositions have come to take new workings that time streams appeared that manipulate the time structure, reversing it, stopping it or making it fluctuate between the three levels of time, or repeating it or make

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Publication Date
Thu Jul 01 1999
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
Records of some leaf miners of Anthomylidae, (Diptera) and their host plants in Iraq
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The leaf miners Pegoinya terbrans (Rondani) and P. bicolor (Wiedemann) (Diptera; Anthomyiidae) were newly recorded in Iraq. Host plants of these leaf miners and P. cunicularia (Rondani) were identified: P. bicolor was found to be monophagous, whereas P. terbrans and P. cunicularia were oligophagous . It was found that Cirsixim syriaca and Silybum marianum were more susceptible to P. terbrans than the other ones. Infectivity and severity of infestation were estimated for most susceptible weeds against P. terbrans and P.bicolor. These leaf miners. Have two generations a year.

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