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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
Fri Dec 23 2022
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Preparation and in-vitro Evaluation of Secnidazole as Periodontal In-situ Gel for Treatment of Periodontal Disease
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This study aims to develop a thermosensitive mucoadhesive periodontal in situ gel of secnidazole for local release of drug for treatment of periodontitis, in order to increase the drug residence time and to increase patient compliance while lowering the side effects of the drug.

Cold method was used to prepare 30 formulas of secnidazole periodontal in situ gel, using different concentrations of thermosensitive polymers (poloxamer407 alone or in combination with poloxamer 188) and methyl cellulose (MC ) or hydroxypropyl methylcellulose (HPMC K4M )in different concentrations used as mucoadhesive polymer and the resultant formulations were subjected to several tests such as   gelation temperature GT, appearance and pH value. The fo

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Publication Date
Sun Jan 01 2012
Journal Name
International Journal Of Cyber-security And Digital Forensics (ijcsdf)
Genetic Algorithm Approach for Risk Reduction of Information Security
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Nowadays, information systems constitute a crucial part of organizations; by losing security, these organizations will lose plenty of competitive advantages as well. The core point of information security (InfoSecu) is risk management. There are a great deal of research works and standards in security risk management (ISRM) including NIST 800-30 and ISO/IEC 27005. However, only few works of research focus on InfoSecu risk reduction, while the standards explain general principles and guidelines. They do not provide any implementation details regarding ISRM; as such reducing the InfoSecu risks in uncertain environments is painstaking. Thus, this paper applied a genetic algorithm (GA) for InfoSecu risk reduction in uncertainty. Finally, the ef

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Publication Date
Fri Sep 24 2021
Journal Name
Proceedings Of Sixth International Congress On Information And Communication Technology
Minimizing Costs of Transportation Problems Using the Genetic Algorithm
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Publication Date
Fri Jan 01 2010
Journal Name
Journal Of The College Of Languages (jcl)
The Abuse of Children In Emily Bronte's Wuthering Heights
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Emily Bronte is born in Yorkshire on 30 July 1818. Her father, Rev. Patrick Bronte, is a man of intelligence and determination which enables him to gain an admission as a sizar to 81. John's Cambridge in 1802. He has six children where Emily is the fifth. The mother is a young beautiful girl who belong to an important family. Both Emily's parents try to teach

                       Their children well, support them all the time and elevate them to

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high levels. This causes an eagerness towards reading and writing, but the happiness of the children is affected by the sickness and later on by the death of their mother in 1821. After that things would

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Publication Date
Wed Sep 07 2011
Journal Name
International Journal Of Pharmacy And Pharmaceutical Sciences
CLINICAL EFFICACY OF LOCALLY INJECTED CALCITRIOL IN ORTHODONTIC TOOTH MOVEMENT
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Orthodontic treatment has two major problems: being lengthy and costly procedure. The present study was designed to evaluate the clinical efficacy of locally injected vitamin D3 Keywords: Orthodontic, Calcitriol, Local injection, OTM (calcitriol) in accelerating orthodontic teeth movement (OTM) and reducing treatment time and cost in humans. The study was performed on 15 Iraqi adult orthodontic patients within the age range 17-28 years, they are randomly allocated into three groups, each of five patients and treated with either 15 pg, 25 pg, or 40 pg/0.2ml calcitriol diluted with 10% dimethylsulfoxide (DMSO). The maxillary arch of every patient was divided into control (right) and experimental (left) sides. In addition to force application,

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Publication Date
Sat Apr 01 2023
Journal Name
Siriraj Medical Journal
The Potential of Vitamin-D-Binding Protein as a Urinary Biomarker to Distinguish Steroid-Resistant from Steroid-Sensitive Idiopathic Nephrotic Syndrome in Iraqi Children
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Objective: To determine the ability of uVDBP to discern SRNS from steroid-sensitive nephrotic syndrome (SSNS) in Iraqi children. Materials and Methods: This cross-sectional study enrolled children with SRNS (n=31) and SSNS (n=32) from the pediatric nephrology clinic of Babylon Hospital for Maternity and Pediatrics over three months. Patients' characteristics in terms of demographics, clinical data, and urinary investigations were collected. Quantitative analysis of uVDBP levels was undertaken via a commercially available ELISA kit. Results: The median uVDBP values were significantly higher (p-value<0.001) in the SRNS group (median=10.26, IQR=5.91 μg/mL) than in the SSNS group (median=0.953, IQR=4.12 μg/mL). A negative correlati

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Publication Date
Tue Nov 01 2022
Journal Name
Aci Structural Journal
Stress at Ultimate in Internally Unbonded Steel Based on Genetic Expression Programming
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Publication Date
Tue Jul 06 2021
Journal Name
Animals
Comparison of the Genetic Structure of Invasive Bigheaded Carp (Hypophthalmichthys spp.) Populations in Central-European Lacustrine and Riverine Habitats
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Bigheaded carps (bighead carp, Hypophthalmichthys molitrix, and silver carp, Hypophthalmichthys nobilis) and their hybrids play an important ecological and economic role in their original habitat, while their introduced stocks may pose serious ecological risks. To address questions about the persistence and invasiveness of these fish, we need to better understand their population structures. The genetic structures of bigheaded carp populations inhabiting Lake Balaton and the Tisza River were examined with ten microsatellite markers and a mitochondrial DNA marker (COI). The Lake Balaton stock showed higher genetic diversity compared with the Tisza River stock. Based on hierarchical clustering, the Tisza population was characterized o

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Publication Date
Tue Jul 01 2014
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Serum Leptin levels in ovarian polycystic disease and its correlation to body weight
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Background: Poly cystic ovary syndrome is a common disorder in women of reproductive age, it is associated with disturbance of reproductive, endocrine and metabolic functions. The pathophysiology of PCOS appears to be multifactorial and polygenic. Leptin seems to play an important role in pathophysiology of PCOS especially in women with BMI ≥25kg/m2. Objectives: To assess leptin level in both PCOS and healthy women and explore the relation to their body weight and body mass index. Patient and Methods: A total of 120 women were enrolled in this study, 60 women (50%) had PCOS (study group) and the reminder 60 women (50%) were healthy women and considered as control group. BMI was calculated first. Both groups were further sub

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Publication Date
Sun Jun 01 2025
Journal Name
Journal Of University Of Anbar For Pure Science
SARS-CoV-2 history, diagnosis, genetic diversity and treatment: a comprehensive review
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