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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 Jul 23 2013
Journal Name
Arabian Journal Of Geosciences
Morphodynamics, landform development and origin of the Ga’ara depression, Western Desert of Iraq
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This work deals with the study of the morphodynamics, history of development of landforms and the origin of the Ga’ara depression. The depression is a suboval erosional topographic feature extending in E-Wdirection and located about 50 km north of Rutba Town, at the Western Desert of Iraq. The area is characterized by fresh and clean surfaces, scarcity of vegetation, abundance of rills, intense drainage and immature soil. These clues indicate that the erosion in the study area is effective. Four types of erosion features are recognized in this area namely sheet, rill, badland and wind erosion. The extent of the wind erosion depends on its position in relation to the prevailing wind direction. Water, wind and gravity are the main agents of

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Publication Date
Mon Jan 01 2024
Journal Name
Aip Conference Proceedings
Biosynthesis, characterization, and applications of aluminum oxide nanoparticles using aqueous extract of Cinnamon
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Publication Date
Mon May 22 2023
Journal Name
Journal Of Optics
The influence of gold nanoparticles on electro-optical properties of nematic liquid crystal
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Publication Date
Sun Jan 01 2023
Journal Name
Journal Of Namibian Studies
The Effect of Investment Risks on the Efficiency of Stock Pricing - Analytical Research
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The research aims to know the effect of investment risks measured by the beta coefficient on the efficiency of stock pricing measured by the pricing error. The research was applied in the banks listed in the Iraq market for the period (2017-2020). That affects the value of the shares of the companies listed in it and the risks associated with it, as the risks are a dynamic process that changes over time depending on the variables that affect the general development of the economy, so these fluctuations should be taken into account to achieve maximizing returns and reducing risks and what is reflected in stock prices in the Iraqi markets Securities, through which the following question was asked: How does investment risk affect the efficienc

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Publication Date
Tue Nov 03 2020
Journal Name
Iium Medical Journal Malaysia
Role of the Immunohistochemical Marker (Ki67) in Diagnosis and Classification of Hydatidiform Mole
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Introduction: Since the hallmark of gestational trophoblastic disease is trophoblastic proliferation, Ki67 is regarded as the best marker in studying hydatidiform mole.This study was conducted to evaluate the role of this proliferative marker in distinguishing among hydropic abortion, partial and complete hydatidiform mole. Materials and methods: This is a cross sectional study involving the application of Ki67 on a total of 90 histological samples of curetting materials from molar (partial and complete mole) and non molar hydropic abortion belong to Iraqi females, so three study groups were created. Immunohistochemical expression in villous cytotrophoblasts, syncytiotrophoblasts and stromal cells were recorded separately by three i

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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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Publication Date
Tue Feb 12 2019
Journal Name
Biochemical And Cellular Archives
TOXIC EFFECTS OF ABRUS PRECATORIUS EXTRACT ON LIVER AND KIDNEY OF ALBINO MICE
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Abrus precatorius L. is an important medicinal plant belonging to family Fabaceae. The present study was conducted to perform pre-clinical safety evaluation and study the pharmacological effects of the ethanolic seeds extract of A. precatorius in management of pain, psychiatric and neurological conditions. Acute toxicity was performed to study the general behavioural pattern of mice after treatment with the test extract (single doses of 1000, 2000, 3000,4000,5000 mg/kg, body weight) and sub-acute toxicity studies were performed to study the toxic effects of the test extract (1000,2000,3000 mg/kg, per os for 14 days) on different haematological parameters, body and organ weight and histopathology of liver and kidney. The toxicological evalua

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Publication Date
Wed Mar 10 2021
Journal Name
Baghdad Science Journal
The Effect of Germination on Chemical Constituents of Broad Beans and Chickpeas Seeds
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This study was carried out to find out the effect of germination of broad beans and chickpeas seeds for different periods on their antinutritional factors content ( Trypsin inhibitor and Phytic acid ) and the chemical constituents of germination seeds compared with the control samples (ungerminated seeds) . The results indicated asignificant increase (P<0.05) in crude protein content as germination period proceeded.The highest values of 28.0% and 24.0% were reached on the sixth and fourth day for germinated broad beans and chickpeas respectively, The intial values were 25.6% and 23.5% for control samples, respectively. The content of raffinose,stachyose and verbascose were reduced as germination period proceeded, Stachyose and verbascose we

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Publication Date
Fri Sep 01 2023
Journal Name
Migration Letters
Effectiveness and Safety of Intense Pulsed Light in the Treatment of Hirsute Women.
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Publication Date
Thu Jan 31 2019
Journal Name
Journal Of The College Of Education For Women
Geographical distribution efficiency of the civil defense centers in the city of Baghdad
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The city suffers from the weakness of the civil defense to provide services where there are clusters of residential Guy covered services for that requires the study of the geographic distribution of the civil defense centers in Baghdad care great because they take care of Protect the population and their own property and protect state institutions. Through a review of the problems faced it is expected that this study will help decision-makers to take appropriate steps to develop this service core

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