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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 Feb 20 2019
Journal Name
Political Sciences Journal
The political participation of the Iraqi woman Between ambition and challenges
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The political participation of the Iraqi woman, gains a big importance equivalent to its role in all other fields. Therefore , it represents a higher value in the democratic orientation in addition to the importance of rising the reality of the woman specifically in the fields that are considered as a scale of the human development like the income, health, and education . The weakness of womenʹs political participation, is something that can't be ignored or neglected if we are looking forward to the rising of the country᾽s reality and achieving the required development in its all aspects. The woman is half of society or more than that due to the burden of raising the generations tasks. This can be achieved by taking part in th

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Publication Date
Tue Oct 09 2018
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
COMMON AND NEW RECORDS OF LICHENS FROM IRAQI KURDISTAN REGION, IRAQ
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Based on collections made during March to September 2012. A totals of 58 species belong to 33 genera were identified from extra north to extra south of Erbil governorate, among them 30 species are registered as a new record to flora of Iraq. Most attention was paid to the most common and abundant lichens that present almost in most locations, which were Collema cristatum, Diploschistes scruposus, Lecanora dispersa, Lecanora murales, Pertusaria flavicunda, Placidium lacinulatum, Thelomma californicum and Verrucaria Maura.

 

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Publication Date
Mon May 27 2019
Journal Name
Al-academy
The Deliberative Action in the Labor Market of Iraqi Art The Concepts and the Application: شيماء وهيب خضير
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The analysis of the orientations of Iraqi art commodification contributed to the discovery of deliberation, which was founded in the deliberative discourse in the trends towards commodification in the Iraqi art, since the important transformations in social structures and relations produced a dictionary with new vocabulary and tools that replaced the traditions and norms that have been in circulation for a century. Deliberation and commodification have become more prevalent in the mechanics and trends of the art where the pace of change is becoming increasingly frantic towards the market. The general market for art constitutes one of the most effective phenomena within contemporary art, that there has been a proliferation of sales auctio

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Publication Date
Fri Jul 19 2024
Journal Name
Baghdad Science Journal
The correlation between micro-RNA 146a and IL-17 in the serum of Iraqi patients with cystic echinococcosis
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داء المشوكات الكيسي (CE) هو مرض وبائي يسبب مرضًا خطيرًا وخسائر اقتصادية في معظم بلدان العالم. MiRNAs هي عامل جيني ضروري لتنظيم الاستجابة المناعية من خلال قدرته على التدخل في التعبير الخلوي ؛ واحد هذه الحوامض النووية الدقيقة -146 أ. هدفت الدراسة الحالية تقييم إذا كان بإمكاننا استخدام microRNA 146a كمؤشر حيوي للكشف عن    CEو تحديد العلاقة بين التعبير الجيني microRNA 146a و IL-17 في مرضى CE.حيث اشتملت الدراسة على 50 مريضًا من CE تم إد

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Publication Date
Sun Jan 01 2023
Journal Name
Journal Of Population Therapeutics And Clinical Pharmacology
IGG and IGM response in a group of Iraqi health care worker following SARS-CoV-2 mRNA vaccine
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Publication Date
Tue Sep 15 2020
Journal Name
Al-academy
Transformations of Actor's Performance between the Body and Mask Dualism in Iraqi Child's Theatre Shows: حازم عوده صيوان
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The Child's theatre was and still is the most investing art for masks of all kinds (partial and total) for suspense, aesthetic and artistic purposes that meet the requirements of those performances. Here the actor's performance is associated with two tools, i.e. the body and the mask, where it has become a must to search for the performance transformations required in order to achieve the highest level of the right performance through this dualism. This urged the researcher to address this problem. Thus, the researcher has put forward an objective to identify the transformations of the character's performance between the body and the mask in the child's theatre shows. The research consists of a methodological framework and a theoretical

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Publication Date
Wed Mar 01 2017
Journal Name
Journal Of Al-nahrain University-science
Cytological Effects of Mutagenic Agents and NaCl on Mitotic Division in Two Iraqi Rice (Oryza sativa L.) Genotypes
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This study was carried out to determine the effects of NaCl (0.00, 50, 100, 150, 180 or 200) mM and two different types of mutagens chemical mutagen ethyl methyl sulphonate (EMS) at 0.5% and physical mutagen UV-B irradiation (40 min time exposure), on mitotic division in two Iraqi rice genotypes Amber 33 (A33) and Amber Baghdad (AB). Different concentrations of NaCl were used. Mitotic index (MI %) was decreased significantly by increasing NaCl concentration, however the highest mitotic index was recorded in mutated genotypes with EMS and UV-B. Different abnormal chromosomes were noticed in mutated plants. Results showed high percentage of abnormal chromosomes in EMS mutated genotypes. In addition no significant differences between genotypes

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Publication Date
Mon Aug 01 2016
Journal Name
Journal Of Economics And Administrative Sciences
Knowledge value added methodology between theory and application Comparative filed research in some of the Iraqi private banks
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Abstract

        The research to have a clear perceptions about the knowledge value added to assess the knowledge resources of the Iraqi private banks, depending on the value added methodology of the proposed defined (Housel & Bell, 2001), which assumes that the  knowledge value added come through synergetic relationship between knowledge resource and information technology, trying to the possibility of mainstream theory and its application in the Iraqi environment and interpretation of results, and on this basis was launched search of a research problem took root synergetic nature of the relationship between knowledge (human)  resource and

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Publication Date
Mon Dec 02 2024
Journal Name
Iranian Society Of Parasitology
Single Nucleotide Polymorphism of IL-18 (Rs 1946519) in Recurrent Aborted Iraqi Women and Its Association with Toxoplasmosis
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Publication Date
Sun Jan 01 2017
Journal Name
Research Journal Of Pharmacy And Technology
The Lived Experience of Iraqi Nurses who Live and Work in Communities Impacted by War or Terrorist Threat
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