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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
Tue Mar 28 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Implementation of a Clinical Pharmacy Training Program in Iraqi Teaching Hospitals : Review Article
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Pharmaceutical care is a patient-centered, outcomes oriented practice that requires the pharmacist to work in concert with the patient and the patient’s other healthcare providers to promote health, to prevent disease, and to assess, monitor, initiate, and modify medication use to assure that drug therapy regimens are safe and effective. In addition, the presence of clinical pharmacists has led to a higher quality of patient education and provision of complete detailed information for patients. In developed countries Pharm D has become the professional degree for practice of Pharmacy. The graduates will be enrolled in a pharmacy residency program; admission to the residency programs is available to Pharm D graduates of an accredit

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Publication Date
Tue May 11 2021
Journal Name
Research J. Pharm. And Tech
Association of Serum Renal Function Levels with Heart Failure Disease in Iraqi Patients
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Renal function tests are commonly used in clinical practice to look for renal disease, the most common includes the serum urea, uric acid and creatinine. Heart failure patients have a higher incidence of renal function test abnormalities than individuals who do not have heart failure disease. Fifty subjects of adults (male) were divided in to two groups, 25 subjects (healthy) as control (group1) and 25 subjects with heart failure (group 2). Our results indicate that serum uric acid, urea, and creatinine values were significantly elevated (P≤0.05) in patients group (2) compared with healthy group (1). The results also showed, the effect of age categories on uric acid blood urea nitrogen and creatinine values (P≤0.05) and there were no si

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Publication Date
Tue Jan 01 2019
Journal Name
Indian Journal Of Public Health Research &amp; Development
Maximum Bite Force among Iraqi Primary School Children in Mixed dentition
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Publication Date
Wed May 24 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Determination of Phenol Components in Rachis and Leaves of Some Grape Varieties (Vitis vinifera L.)
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    Total phenols, Proanthocyanidin, Catechin  and Epicatechin wrer extracted and determined in ten rachis and leaves of grape  varieties (Vitis vinifera L.) namely: Shadda Soudda, Rush Meo, Rossi 5, Kamali, Halawani, Black Monica, Dase Al-Anz,  Buhrizi, Rossi 7 and Thompson. through two seasons. The results indicated that the rachis of the tested varieties contain total phenol in concentration (2079.76 and 2557.59), (1458.18 and 2119.89), (2233.01 and 3322.26), (3106.22 and 4613.43), (3251.15 and 4739.05), (1668.88 and 2548.59) and (4163.11 and 6202.90). (3922.22 and 5848.17), (3359.03 and 4915.36) and (1035.45 and 1502.27) mg/kg for the tow seasons, respectively. The rachis of  the white grape varieti

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Publication Date
Sat Aug 03 2019
Journal Name
Current Research In Microbiology And Biotechnology
Seropositivity of Helicobacter pylori among Iraqi patients with Atherosclerosis and coronary artery disease
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The present study evaluated the anti- Helicobacter pylori IgG, IgA and the role of virulence factor of H. pylori Vacuolating associated cytotoxin gene (Vac A) as a risk factors for CAD. The levels of serum IgG and IgA was done by indirect immunofluorescent (IIF) whereas Vac A measured by enzyme linked immunosorbent assay (ELISA). Ibn Al-Bitar specialist center for cardiac surgery laboratory and Ministry of Health/ Baghdad/ Iraq, between May and October 2018. Seventy Iraqi patients with CAD were enrolled in this study, their ages ranged between 40-84 years ; and 20 individuals as a control group which was divided into 2 subgroups: 10 apparently healthy volunteers (negative control) and the other subgroup contained 10 with normal coronary art

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Publication Date
Mon Apr 21 2025
Journal Name
Basic Education College Magazine For Educational And Humanities Sciences
Developing the design structure of Iraqi children magazine covers
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Publication Date
Wed Sep 01 2021
Journal Name
Meta Gene
Genetic polymorphism of IL-17A (rs2275913) in Iraqi women with recurrent abortion and its relationship with susceptibility to toxoplasmosis
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Publication Date
Tue Jun 01 2021
Journal Name
Gene Reports
Vitamin D receptor rs2228570 and rs1544410 genetic polymorphisms frequency in Iraqi thalassemia patients compared to other ethnic populations
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Background: The genetic polymorphisms of vitamin D receptor (VDR) have an association with thalassemia development, additionally to the environmental elements that elicited the disorder in the genetically predisposed individuals. As well, VDR functions responsible for the regulation of bone metabolism, such its part in immunity. Aim: The sitting study intended to inspect the association between thalassemia disease and the genetic polymorphisms of VDR among the Iraqi population then compared these findings to other findings of thalassemia patients in other different ethnic populations. Materials and methods: The restriction enzymes Bsm-I and Fok-I were applied to determine the genetic polymorphisms frequencies of VDR by a Polymerase Chain Re

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Publication Date
Tue Jan 01 2019
Journal Name
Indian Journal Of Public Health Research &amp; Development
The Relation between Some Genetic Traits (Ptc Tasting, Tongue Rolling, Earlobe Attachment and Dental Occlusion in Iraqi Adults
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Publication Date
Mon Apr 10 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Genetic Diversity of Iraqi of Common Reed Phragmites australis by Using RAPD Technique
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   Genetic diversity was studied in 31 Iraqi common reed samples , which were collected from Iraqi marshes in Basrah , Messan and Thi-Qar provinces and also from different areas in Baghdad province . Random amplified polymorphic DNA (RAPD) technique was used for evaluation of genetic diversity between collected samples . Seven primers were used for polymorphism detecting between common reed samples . The results revealed 102 bands for the all samples when RAPD-PCR was used . The percentage rate for the monomorphic bands is 6.86% , while the percentage rate for the polymorphic bands is 93.13% , and the numbers of these bands are ranging between 10 to 17 for each used primer .  The UBC1 primer gave the highest number of poly

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