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Clinical and Genetic Varieties of Gaucher Disease in Iraqi Children
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Abstract<p>Gaucher disease (GD), which is due to a deficiency in the lysosomal enzyme β-glucocerebrosidase, is a rare genetic disorder. It is characterized by a wide variety of clinical manifestations and severity of symptoms, making it difficult to manage. A cross-sectional hospital-based genetic study was undertaken with 32 pediatric patients. We recruited 21 males and 11 females diagnosed with GD, with a male-to-female ratio of 1.91:1. The mean age of the study population was 8.79 ± 4.37 years with an age range from 8 months to 17 years. We included patients on clinical evaluation from 2011 to 2019. An enzyme assay test was used to measure β-glucosidase enzyme activity in leukocytes and the GBA gene study was performed by polymerase chain reaction technique. We found GD type 1 in 27 (84.37%) participants, GD type 3 in five (15.63%) participants, while none classified as GD type 2. The dominant mutation in GD 1 was N370S in 81.5%, of which two-thirds were homozygous. The second common mutation in this type of disease (L444P) was present in nine cases (40.9%), two of whom were homozygous (9.9%). Meanwhile, R463C was present in six cases (27.27%), of whom one was homozygous. In GD 3, the dominant mutation was L444P as seen in 80% of the patients followed by N370S and R463C in 20%. This study shows that the most common mutant allele in this study was N370S, followed by L444P. Further large-scale studies with more advanced designs are recommended to explore the sequences of GBA genes.</p>
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Publication Date
Wed Dec 30 2020
Journal Name
Al-kindy College Medical Journal
Measurement of plasma fibrinogen and D-dimer in a sample of Iraqi patients with solid malignant tumors
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Background: Multifactor affect the pathogenesis of thrombosis in solid malignancy; however, a significant role is attributed to the cancer cells ability to interact with and activate the host hemostatic system. [1] 

Hemostasis is highly correlated to tumor growth, angiogenesis and metastasis, modulation of these pathways reflects interesting and promising treatment options in the future. [1]

Most patients with cancer frequently suffer from chronic compensated DIC and have abnormal laboratory coagulation tests without clinical manifestations of thrombosis, which is a subclinical hypercoagulable state that can be detected by varying degrees of activation of blood clotting. The results of laboratory tests in th

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Publication Date
Sun Dec 01 2013
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The impact of the strengths and weaknesses in Iraqi newspapers: The evolution of the consumer - the reader
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The first section of this research discussed  the manner of the research from many sides like the problem it faces, importance of it , its targets ,boundaries, the way to collect and get information's and its assumption.

When the second chapter discussed the press – manufacturing and the development ,importance and types of newspapers, also its merits and weaknesses.

The third chapter talked about the scientific side and how to choose an assumption for the research . as it talked also about the apparent honest and stability tests that help in analyzing the research until getting results and so the right assumption for  the research will be chosen.

And finally, the fourth chapter put highlight on the be

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Publication Date
Mon Jul 20 2020
Journal Name
Biochemical And Cellular Archive
DETERMINATION OF POLYMORPHISM OF GLUTATHIONE S TRANSFERASE (GST) IN THE IRAQI (DIABETIC AND NON-DIABETIC) ACROMEGALIC PATIENTS
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In Iraqi patients with acromegaly the present investigation included 40 control group and 70 patients with acromegaly divided 35 patients with Diabetic while another 35 patients without Diabetic, with ages between (29-72) years for the identification of GST activity polymorphisms by present and absent GSTM1, GSTT1, and PCR-RFLP, enzymatic digestions were carried out using BsmAI (Biolabs. England, UK) for GSTP1b and AciI (Biolabs, England, UK) for GSTP1c.the association GSTActivity with GST genotype were investigated in a cohort of Iraq acromegaly patients comparing with the healthy control group. The results show a non-significant change in GSTP1b gene in both groups, while show high significantly in GSTP1c in diabetic and non-diabetic acro

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Publication Date
Mon Feb 28 2022
Journal Name
Journal Of Educational And Psychological Researches
The Effectiveness of Macton's Method for Developing Non-Linguistic Cognitive Sensory Skills for Autistic Spectrum Children
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The present study aimed at identifying the effectiveness of Macaton method in improving some sensory and cognitive skills in autistic children. In order to achieve the aims of the study, the researcher used the experimental method. The present study sample was (10) children whose ages ranged between (7-10) years and were diagnosed medically with autism disorder. The researcher randomly selected the sample and divided it into two groups: the first group consisted of (5) children representing the experimental group, and (5) children representing the control group after extracting the equivalence between the two groups in terms of age, intelligence, economic and social level and the degree of communication. The program was implemented for t

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Publication Date
Sat Jan 01 2022
Journal Name
International Journal Of Research In Social Sciences &amp; Humanities
Sarah Orne Jewett As a Precursor of Ecoconscious Children Fiction: “A White heron” As an Example
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Nearly a century and a half has passed since Sarah Orne Jewett published her much anthologized short story “A White Heron” (1886), but commentators on the tale missed one of the most important points in the text. It is the story’s similarity to the traditional Euro-centric fairy tale of “Little Red Riding Hood”. As an author, writing at the end of the ninetieth century, a time that witnessed the demise of the Romantic movement in America and the beginning of the age of Realism, Jewett did not romanticize her characters, despite the idyllic landscape in which “A White Heron” is set. Her story can be analyzed as a text that aims at disseminating ecological awareness among her young readers. This study focuses on Jewett

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Publication Date
Thu Nov 14 2024
Journal Name
Journal Of Studies And Researches Of Sport Education
The Effect Of Suggested Exercises On Developing Some Mental Abilities For Children Aged 4-6 Years
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The purpose of the current article lies in determining  the impact of the suggestive  exercises on the development of  the mental capabilities of children. The researchers used the experimental method with a single-group design, which was appropriate for the core of the current article . The study samble  has been specified as children aged 4-6 years in Umm Al-Rabi'een Kindergarten, with a total of 95 children. The study samble  (15 children) was randomly selected.  . After the exercises were completed, the post-tests have been carried out  on the sample  with similar circumstances as that of  pre-tests.  Researchers used statistical methods in the SPSS program. After the results were presented, analyzed, and discussed, The resear

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Publication Date
Mon Jan 02 2017
Journal Name
Al-academy
Features tendency cosmic in contemporary Iraqi configuration
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The research current ( features tendency cosmic in contemporary Iraqi configuration) attempt to study the dimensions of the conceptual and philosophical foundations upon which the tendency of cosmic within the period that extended its influence beyond the place where I grew up to be circulated concepts in all parts of the world, it is no doubt that the world is now heading to rapprochement after the tremendous developments in the field of communication technology and reflected heavily on identity concepts, privacy, the concept of nation-states ... etc. to become an individual and a large area of access to other cultures, and all that aroused the interest of contemporary Iraqi artist this interest arising from the desire to keep up with d

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Publication Date
Sun Nov 01 2015
Journal Name
Journal Of Cosmetics, Dermatological Sciences And Applications
The major psychocutaneous disorders in Iraqi patients
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KE Sharquie, AA Noaimi, MS Younis, BS Al-Sultani, Journal of Cosmetics, Dermatological Sciences and Applications, 2015 - Cited by 8

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Publication Date
Mon Jan 28 2019
Journal Name
Journal Of The College Of Education For Women
Transportation movement with containers in Iraqi harbors
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The use of containers in transportation leads to the reduction in time and effort of the process of loading and unloading of goods as well as protecting the goods from damage and breakage and to reduce the financial costs.
. This development has led also to make changes in the sizes and capacity of ships, therefore changes in the ports must be taken place where they must be provided with an appropriate depth for such vessels, that means the increase in the depth of ports and the establishment of wide storage yards and to provide appropriate mechanisms for handling process.
In this study, the researcher has dealt with this type of transport business in Iraqi ports, namely:
1- Khur Al-Zubair port.
2- Um Qaser port.
In order

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Publication Date
Wed Jun 14 2023
Journal Name
Al-academy
The technical mediator in contemporary Iraqi formation
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 The current research (technical mediator in contemporary Iraqi painting) dealt with the concept of technical mediator in contemporary arts and its role in the qualitative transformation in art, the diversity of discoveries in technical media that artists use in their artistic achievement, and the extent of their impact on contemporary Iraqi painting, where the research problem was identified (what is The nature and role of technical media in showing works in contemporary Iraqi painting) and (What are the intellectual and aesthetic concepts of media and techniques as references for contemporary art in Iraq). The second topic dealt with technical media and their impact on the plastic arts, and the third topic focused on the technical med

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