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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 Jan 01 2014
Journal Name
Al-adab Journal
Glottal Stop in R.P English and Standard Arabic with Reference to Some Other Varieties
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Publication Date
Sun Jun 07 2015
Journal Name
Baghdad Science Journal
Study of Some Biochemical Parameters in Iraqi Children with Acute Lymphoblastic Leukemia
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Leukemia or cancer of the blood is the most common childhood cancer, Acute lymphoblastic leukemia (ALL), is the most common form of leukemia that occurs in children. It is characterized by the presence of too many immature white blood cells in the child’s blood and bone marrow, Acute lymphoblastic leukemia can occur in adults too, treatment is different for children. Children with ALL develop symptoms related to infiltration of blasts in the bone marrow, lymphoid system, and extramedullary sites, such as the central nervous system (CNS). Common constitutional indications consist of fatigue (50%), pallor (25%), fever (60%), and weight loss (26%). Infiltration of blast cells in the marrow cavity and periosteum often lead to bone

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Publication Date
Mon Apr 04 2022
Journal Name
Neuroquantology
The Role of Adropin as a Novel Biomarker in Iraqi Patients with Parkinson's Disease and Osteoporosis
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Publication Date
Sat Apr 02 2022
Journal Name
Neuroquantology
The Role of Neudesin as a Novel Biomarker – in Iraqi Patients with Parkinson's Disease and Osteoporosis
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Neuron-derived neurotrophic factor [NENF], a human plasma neurotrophic factor, also increases neurotrophic activity in conjunction with Parkinson's disease-related proteins in Neudesin. Although Neudesin (neuron-derived neurotrophic secreted protein) is a member of the membrane-associated progesterone receptor (MAPR) protein subclass, it is not evolutionary related to the other members of the same family. The expression of Neudesin is found in both brain and spinal cord from embryonic stages to adulthood, as w Neudesin levels in Parkinson's patients with osteoporosis disease and Parkinson's patients without osteoporosis disease, as well as the relationship between Neudesin levels, Anthropometric and Clinical Features (Age, Gender, BMI) and

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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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Crossref (2)
Crossref
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
Sun Jan 01 2006
Journal Name
Iraqi Journal Of Community Medicine
The Effectiveness &amp; Safety of Topical Podophyllin Therapy in Condylomata Acuminata in Iraqi Infants and Young Children
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KE Sharquie, MM Al-Waiz, AA Al-Nuaimy, IRAQI JOURNAL OF COMMUNITY MEDICINE, 2006

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Publication Date
Tue Jan 01 2002
Journal Name
Journal
The Effectiveness &amp; Safety of Topical Podophyllin Therapy in Condylomata Acuminata in Iraqi Infants and Young Children.
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KESMM Al, WAA Al-Nuaimy

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Publication Date
Mon Nov 10 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
Thu Jul 01 2010
Journal Name
Clinical And Experimental Rheumatology
RE-EVALUATION OF PATHERGY TEST IN IRAQI PATIENTS WITH BEHCET&#39;S DISEASE
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KE Sharquie, R Hayani, J Al-Rawi, A Noaimi, SH Radhy, CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, 2010

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