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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
Mon Jul 25 2022
Journal Name
International Journal Of Health Sciences
Ca242 as a potential prognostic marker in colorectal cancer Iraqi patients
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Background: Colorectal cancer is the third most common cancer-related mortality worldwide, and its prevalence is increasing among many nations.  Aim of the study: Investigate the predictive value of carbohydrate antigen 242 (CA242) in comparison to the CEA biomarker and to estimate the significance of CA242 as prognosis maker in colorectal cancer patients. Methods: a case-control study with a total of 150 individuals, 100 patients (59 males, 41 females) and 50 healthy controls (26 males, 24 females). using an enzyme-linked immunosorbent (ELISA) to determine the serum levels of CA242 and CEA. The study was carried out at the gastroenterology consultation clinic of the oncology teaching hospital between November 2020 and February

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Publication Date
Fri Jun 30 2023
Journal Name
Malaysian Journal Of Science
DETERMINATION OF URANIUM CONCENTRATIONS IN RICE SAMPLES AVAILABLE IN THE IRAQI MARKET USING THE CR-39 DETECTOR
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In this study, the results of the uranium concentrations and specific activity in 10 rice samples are described using a solid-state track detector (CR-39). Samples were collected from various local Iraqi markets with different origins (Iraq, India, America, and Thailand). Our findings found that the results of uranium concentration in all studied samples are ranging from (0.55 ± 0.28 to 1.74 ± 0.31) ppm with a weighted average of (1.24 ± 0.99) ppm. Also, results demonstrate that the specific activity values of the studied samples swing between values of (6.88 ± 3.52 and 21.49 ± 3.85) Bq/Kg. The obtained results of the studied rice samples are indicated that it is less than the acceptable limit of those studies established by ma

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Publication Date
Sat Dec 01 2018
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Evaluation of internal control System in non-governmental organizations: Applied Research in the Iraqi National Olympic Committee
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After 2003 Iraq witnessed a rapid development in the number and kind of non-governmental organizations in addition to the increase in their sources.A lot of obstacles and constraints hinder the development of the said organizations and one of the most important and prominent obstacles is their administrative and accounting structure that affect directly on the existence, continuity and survival of these organizations.This research discussed the concept the non-governmental organizations and reaching the assessment of internal control System in these organizations. Therefore, the researcher has assessed the internal control System applied National Olympic Committee of Iraq. The study showed vulnerabilities in the internal control the said

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Publication Date
Sat Dec 01 2018
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Development means in Iraqi commercial banks to reduce unemployment: A sample of private commercial banks in Iraq
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Many economists believe that the development and promotion of small and medium-sized enterprises is one of the most important sources of economic and social development in countries in general and in developing countries in particular. This is considered to be an essential starting point for increasing production capacity and contributing to tackling poverty and unemployment. In view of the importance of these projects, most developing countries have concentrated their efforts on them. They have encouraged the establishment of small and medium industries, especially after they have proved their ability and efficiency in dealing with the major problems facing different economies.

The banking system plays an important role by finan

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Publication Date
Sun Nov 23 2025
Journal Name
Journal Of Baghdad College Of Dentistry
The effect of tooth shape ratio on mandibular incisors arrangement in Iraqi adult subjects
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Background: This study aimed to assess the effect of tooth shape ratio on mandibular incisor arrangement. Materials and methods: The sample included dental casts of some dental students and orthodontic patients having Class I dental and skeletal patterns with normal occlusion and severe crowding. The sample was divided into two groups according to the severity of crowding into: group I had Class I normal occlusion with mild or no crowded mandibular dentition and group II had Class I malocclusion with severe crowded mandibular dentition. Each group comprising of 40 subjects (20 males and 20 females). The mesio-distal and facio-lingual crown diameters were measured manually for each cast using modified vernier caliper gauge. Descriptive sta

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Publication Date
Mon Jan 01 2024
Journal Name
Proceedings Of The International Conference On Research Advances In Engineering And Technology - Itechcet 2022
Suitability of Iraqi legal system for building operation transfer contract in infrastructure construction projects
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Publication Date
Sun Mar 20 2016
Journal Name
Al-academy
Modeling of violence in a speech creativity photogrammetry Iraqi contemporary: أريج سعد عدنان الهنداوي
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The latest events in Iraq and notably the fall of Mosul in the summer of 2014 have marked a turning point in The modern history of Iraq. Violent terrorist groups have overrun a vast area comprising of many towns in mid and northern Iraq causing many casualties and mass migration. Despite Iraq’s long history of pain and suffering the events of the second half of the year 2014 have been the most violent ever witnessed. From this point of view the researcher has tried to identify specifically in this time and place the effect these events have had on the Iraqi artist and to understand how the Iraqi artists depicted this violence in their works of art. The research comprises four parts; the first looked at the language used and the and pro

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Publication Date
Fri Mar 01 2019
Journal Name
Telematics And Informatics
Modelling the utilization of cloud health information systems in the Iraqi public healthcare sector
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Publication Date
Thu Feb 01 2024
Journal Name
Baghdad Science Journal
Detection of resistance genes (gyrA,qepA,drf1,drf17) for E.coli in Iraqi aquatic environment
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The control of water represents the safe key for fair and optimal use to protect water resources due to human activities, including untreated wastewater, which is considered a carrier of a large number of antibiotic-resistant bacterial species. This study aimed to investigate the prevalence of antibiotic-resistance to E. coli in Tigris River by the presence of resistance genes for aminoglycoside(qepA( ,quinolone (gyrA), and sulfa drugs( dfr1 ,dfr17) due to the frequent use of antibiotics and their release into wastewater of hospitals. Samples were collected from three sites on Tigris River: S1( station wastewater in Adhamiya), S2 (station wastewater in Baghdad Medical city hospital), S3 (station wastew

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Publication Date
Thu Jul 08 2021
Journal Name
Turkish Online Journal Of Qualitative Inquiry (tojqi)
Civil Protection of Rights contiguous to Author’s Royalty in Iraqi Law A comparative study
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