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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 Apr 03 2023
Journal Name
Journal Of Genetic And Environmental Resources Conservation, 2023, 11(1):53-59.
Comparative histomorphological and immunohistochemical study of parathyroid gland in two Iraqi mammals (Weasel, Herpestes javanicus and long-ear hedgehog, Hemiechinus auritus)
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The present study aimed to investigate the anatomy, histology, and immunohistochemistry of parathyroid gland in two Iraqi mammals (Weasel, Herpestes javanicus and Long-ear hedgehog, Hemiechinus auritus) as a comparative study. A total of (20) animal for each species were used in the present study. Animals collected were immediately anesthesia and dissected to get the parathyroid gland. Methods of Humason and Bancroft and Stevens were employed for histological techniques. Different stains were used (Hematoxylin- Eosin stain-(H & E), Periodic Acid Schiff stain-(PAS), Azan stain, and Methyl Blue stain-(MB)) for staining the histological sections. Anti-calcitonin, code140778 marker used for immune-histochemical study. Results of the present stu

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Publication Date
Thu Dec 31 2020
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Premiums and compensations and their impact on the financial solvency of insurance companies: applied research in the Iraqi General Insurance Company
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The collected premiums and the compensations paid are among the main variables that have a prominent role in determining the level of financial solvency of insurance companies, as the higher the financial solvency of the insurance company, the more attractive it is to the target audience to acquire the company's insurance services.

Hence the importance of the issue of the solvency of insurance companies, as it is one of the critical matters on which the effectiveness of the insurance company and its continuation in the labor market depend.

In this research, we try to clarify the role of collected premiums and compensations paid in determining the level of operational solvency of t

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Publication Date
Sun Jun 05 2016
Journal Name
Baghdad Science Journal
Level and Statistical Distribution of Thyroid Peroxidase and Thyroid Hormones in Iraqi patients with Type1 Diabetes Mellitus at Al-Karkh Side
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Type 1 diabetes mellitus (T1DM) is an autoimmune disease frequently associated with autoimmune thyroid disease (AITD). The study is conducted at the Specialized Center for Endocrinology and Diabetes-Baghdad at Al-karkh side, during December 2013 up to April 2014. In this study, we investigate the prevalence of anti-thyroid peroxidase (anti-TPO) antibody in(80) type1 diabetic patients with (AITD) and (30) healthy controls .Blood samples are taken for investigation of thyroid tests by using Vitek Immunodiagnstic Assay System (VIDAS).Enzeme Linked Immunosorbent Assay (ELISA) is used to detect anti-thyroid antibody(anti-TPO). The results show that age, gender and BMI (body mass index) are similar in both groups, p>0.05. Among 80 type1 diabetic

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Publication Date
Tue Feb 27 2024
Journal Name
Pharmacia
Association of the rs1801133 and rs1801131 polymorphisms in the MTHFR gene and the adverse drug reaction of methotrexate treatment in a sample of Iraqi rheumatoid arthritis patients
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Background: Methotrexate is one of the mainstays for treating rheumatoid arthritis (RA) with a wide range of adverse drug reactions, however, it’s the relationship between adverse drug reactions and genetic polymorphism remains to be highlighted, and there is a lack of studies concerning Arabic Iraqi population regarding this aspect.

Objective: Evaluate the association between genetic mutations in the MTHFR gene in SNPs (rs1801133G&gt;A and rs1801131T&gt;G) on the adverse drug reaction for RA Iraqi patients.

Methods: An observational study, that involved 95 Iraqi RA patients with established RA. Patien

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Publication Date
Sun Jun 01 2014
Journal Name
Baghdad Science Journal
The role of TNF-? in the pathogenesis of multiple myeloma “a study in Iraqi patients”
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During recent years, there has been an increasing interest in the investigation of the cytokines roles in pathogenesis of cancer, thus the study aimed at evaluating the level of tumor necrosis factor-alpha(TNF-?) in sera of Iraqi multiple myeloma (MM) patients. Beta 2-microglobulion (?2-m) was assessed to determine if there was any association between this cytokine and the level of ?2- m, as the latter is related to the stage of the disease. In addition, the age and gender were also taken into consideration. Furthermore, we investigated the relationship between IgG and TNF-? in sera of patients. 49 Iraqi patients (27 males and 22 females).The patients were also divided into two groups: the first group included (17) patients who were

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Publication Date
Wed Mar 29 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Gravimetric Estimation of Caffeine in Different Commercial Kinds of Tea Found in the Iraqi Market
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          Caffeine (1,3,7-trimethylxanthine), which is the most widely consumed stimulant in the world, had been isolated and estimated gravimetrically in fifteen  different commercial kinds of tea found in the Iraqi market.The kinds of tea were chosen according to their differences in the degree of fermentation and the method of processing i.e. black , gray and  green . The isolated caffeine was identified by melting point, sublimation, TLC, chemical tests, UV , IR , HPLC and CHNO analysis.                                 &nb

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Publication Date
Wed Jun 01 2022
Journal Name
Res Militaris
The Effect of Internal Control in Supporting the Implementation of Cost Techniques in Iraqi Companies
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In the last few years, there have been a lot of changes in the economy, society, and the environment. This has led to much competition between companies, directly and indirectly affecting production and marketing processes. Most companies are trying to cut production and manufacturing costs by using modern cost techniques such as product life cycle costing and Continuous Improvement (Kaizen) technology, in the method of measuring production costs or service costs, and the need for internal control to keep an eye on how these technologies are being used and how well they work. And to find out the effect of internal control on the implementation of costing techniques in Iraqi companies, 64 questionnaires were given to people who work in the i

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Publication Date
Tue Jan 01 2019
Journal Name
Transylvanian Review
The role of the ABC system in determining the costs of services in Iraqi banks
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The role of the ABC system in determining the costs of services in Iraqi banks

Publication Date
Sat Dec 15 2018
Journal Name
Journal Of Baghdad College Of Dentistry
The Impact of Breastfeeding Duration on the Development of Normal Occlusal Features of the Primary Dentition among Baghdad Preschool Children
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Background: Normal occlusal features of primary dentition are crucial for normal development of the permanent dentition. Breastfeeding is an important factor for both general and dental health of children. Aim: The aim of the present study is to assess the impact of the breastfeeding duration on the prevalence of normal occlusal features of the primary dentition among preschool children in Baghdad. Materials and Methods: The sample was 630 Iraqi children (270- boys, 360 girls), aged 3-5 years selected from four kindergartens in Baghdad city. The study was carried out through questionnaire and clinical examination. Normal occlusal features were examined as the presence or absence of interincisive spaces (IS) and primate spaces (PS), termi

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Publication Date
Wed Sep 27 2023
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Evaluation of the Genotoxicity of the Aerial Parts of Iraqi Euphorbia cyathophora on Bone Marrow and Spleen Cells in Mice
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The aim of the study was extraction of arial part of Euphorbia cyathophora constituents with methanol and evaluate its effect on mitotic index and total chromosomal aberration bone marrow cell and spleen cell in mice  200 gm of E. cyathophora fine powder was defatted then extracted by cold maceration 80% ethanol for seven days. The extract was filtered and dried in a rotary evaporator then the dried extract was suspended with water and consecutively extracted using chloroform, ethyl acetate for each. The aqueous layer was then mixed with 100ml methanol. These fractions are dried under reduced pressure to obtain the dry extract. Twenty-four Albino mice were used for the experiment. The animals were divided into four groups: Gr

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