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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
Sun Jan 01 2012
Journal Name
Al-taqni Journal
The Frequency of Urinary Tract Infection According to the Age and Sex in Some of Iraqi Children.
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Publication Date
Mon Jul 04 2022
Journal Name
International Journal Of Health Sciences
The association between plasma IL-6 levels and several thalassemia-related clinical features in Iraqi patients
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The present study was set to investigate the potential association between the level of Interleukin-6 (IL-6), as a key component of the pro-inflammatory response, with different thalassemia’s biological and clinical features. For this purpose, one hundred fifty blood samples were collected from 100 beta-thalassemia patients, who attended the Genetic Hematology Centre at Ibn Al- Baladi Hospital in Baghdad, Iraq, and 50 healthy subjects who were employed as a control group. IL-6 levels were estimated using an ELISA Kit, whereas other thalassemia-related clinical features (such as HbA, HbF, ferritin, blood transfusions, splenectomy status, and the history of frequent infection) were additionally assessed. The results of the present s

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Crossref
Publication Date
Wed Apr 01 2020
Journal Name
Indian Journal Of Forensic Medicine & Toxicology
Hormonal and mineral imbalance effect on bone resorption in predialysis iraqi patients with chronic kidney disease
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Scopus
Publication Date
Wed Jan 01 2014
Journal Name
Journal Of Biology And Life Science
Newcastle Disease Virus (NDV) Iraqi Strain AD2141 Induces DNA Damage and FasL in Cancer Cell Lines
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The oncolytic viruses are promising form of cancer therapy which is based on the selectively killing of the cancer cells. This study was aimed to investigate the role of Newcastle disease virus (NDV) Iraqi strain AD2141 in apoptosis. Firstly, the virulence of AD2141 was detected in embryonated chicken eggs after 48hrs of infection. It was observed a hemorrhage in the skin of infected embryos that led to death. Then, the ability of this strain for regression cancer cell lines was examined. By using cytotoxicity test, it was found 128 HAU/ml of AD2141 had a potent inhibition against growth of RD and AMN3 after 72hrs of exposure time; the inhibition rate was 86.8% and 86.98% respectively. Moreover, the apoptotic activity of AD2141 was exami

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Publication Date
Fri Mar 03 2023
Journal Name
The Egyptian Journal Of Hospital Medicine
Immunological Assessment of Human Adenosine Deaminase Activity in Iraqi Female With Thyroid Autoimmune Disease
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Human Adenosine deaminase is an essential enzyme for modulating the bioactivity of thyroid hormones, and It is important for the maturation and differentiation of lymphocytes, although its clinical importance in thyroid diseases have yet to be identified. Objective: The aim of the current study is to determine the Adenosine deaminase concentration in healthy controls, and in autoimmune thyroid diseases such as Graves' Disease, and Hashimoto's Thyroiditis. Patients and methods: A total of 183 serum specimens of 103 female patients with autoimmune thyroid diseases and 80 healthy control groups were included in this study and collected from the Baghdad Medical City, Iraq. Quantitative Human Adenosine Deaminase ELISA kits were used to estimate

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Publication Date
Sat Jul 15 2023
Journal Name
Journal Of Aridland Agriculture
Estimating the infection severity and infection percentage by aphids on eggplant varieties
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Finding a new source of resistance is important to reduce the use of synthetic pesticides, which can meet the global need of suppressing pollution. In this study, the resistance of eight eggplant cultivars to Aphis gossypii was evaluated. Results of the current study highlighted that the cultivar Long-Green has a very strong resistance after 14 days post infestation whereas Pearl-Round and White-Casper cultivars were susceptible. The rest of the tested cultivars (Green-oblong, Purple-panter, Paris, Ashbilia, and Barcelona) had mild resistance. Also, the study found significant differences between the infested and non-infested plants among the tested cultivars in the plant’s height, fresh-, and dry-weight. The susceptible cultivars

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Scopus Crossref
Publication Date
Mon Mar 08 2021
Journal Name
Baghdad Science Journal
Effect of growth regulators on responsible rooting for two varieties
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Conducted two trials separate plants Defla first two seasons, 1998 and 1999 to test the susceptibility Altgveria three varieties including Azharha colored white and pink Qati and pink Qtmr and second seasons 1999 and 2000, two types color Azhaarhama white and pink Qati treated mind half-timbered two types of Alaoxinat IBA and NAA and three concentrations as well as repeatersAdhrt results low Almaah rooting

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Publication Date
Mon Nov 10 2025
Journal Name
Imam Ja&#39;afar Al-sadiq University Journal Of Legal Studies
The legal framework for the protection of new plant varieties
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TRIPS agreement was The first to apply protection by patents. However, this type of protection, which grants exclusive and monopoly rights to patent owners, came at the expense of developing countries which are considered rich in biodiversity and also at the expense of traditional and poor knowledge of modern technologies. The release of new plant varieties has led to the emergence of biopiracy and looting of the rights of developing countries without a license

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Publication Date
Wed Sep 26 2018
Journal Name
International Research Journal Of Pharmacy
DENTAL PHARMACOLOGICAL KNOWLEDGE AMONG IRAQI MOTHERS AND ITS IMPACT ON THEIR CHILDREN
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Crossref
Publication Date
Wed Jun 17 2015
Journal Name
جامعة المستنصرية
study of some aspect on Iraqi children with Atopic Dermatitis
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