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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 Jan 01 2018
Journal Name
Complexity
Complexity Measures for Quantifying Changes in Electroencephalogram in Alzheimer’s Disease
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Alzheimer’s disease (AD) is a progressive disorder that affects cognitive brain functions and starts many years before its clinical manifestations. A biomarker that provides a quantitative measure of changes in the brain due to AD in the early stages would be useful for early diagnosis of AD, but this would involve dealing with large numbers of people because up to 50% of dementia sufferers do not receive formal diagnosis. Thus, there is a need for accurate, low-cost, and easy to use biomarkers that could be used to detect AD in its early stages. Potentially, electroencephalogram (EEG) based biomarkers can play a vital role in early diagnosis of AD as they can fulfill these needs. This is a cross-sectional study that aims to demon

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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 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
Sun Oct 18 2020
Journal Name
Al-kindy College Medical Journal
Management of COVID-19 in Children and Adolescents -A Practical Up-to Date Guideline
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Sufficient high-quality data are unavailable to describe the management approach and guideline of COVID-19 disease in pediatric and adolescent population which may be due to mild presentation in most of cases and less severe complications than older ages.

World Health Organization was concerned with the establishment of an approved guideline to manage the increasing number of COVID-19 patients worldwide aiming to prevent or lessen COVID-19 global burden.

The clinical features have a wide spectrum starting from uncomplicated mild illness, mild-moderate pneumonia, severe pneumonia, acute respiratory distress syndrome, sepsis, septic shock, and multisystem inflammatory syndrome in children.

Many important definitions

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Publication Date
Thu Oct 20 2022
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Investigation of the ADA Enzyme and Lipid Profile in Children Infected with Enterobius Vermicularis
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Adenosine deaminase (ADA) and lipid profile may be associated with some diseases. Parasitic diseases have also been reported to be associated with ADA and lipid profiles. This study aimed to evaluate ADA, lipid profile, and total protein among children infected with E.vermicularis. This research was carried out in Baghdad province from October 2021 to the end of March 2022. One hundred samples were collected from both sexes, ranging in age from (3-16) years. They all underwent examination for ADA, cholesterol, low-density lipoprotein (LDL), high-density lipoprotein (HDL), and total protein levels. Results showed no significant differences between E.vermicularis positive group and E.vermicularis negative group regarding ADA, LDL, and trig

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Publication Date
Wed Mar 10 2021
Journal Name
Baghdad Science Journal
Health Assessment and unhealthy eating habits for children nurseries in the city of Baghdad
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This study was conducted to identify the health status of children's nurseries in the city of Baghdad and to identify improper dietary habits practiced by these children have shown the results of this study that the same proportion of childhood diarrhea disease research and infections

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Publication Date
Thu Jan 01 2015
Journal Name
Iraqi Journal Of Biotechnology
Detection of E. coli and rotavirus in diarrhea among children under five years old‏
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Publication Date
Sun Jan 30 2022
Journal Name
Iraqi Journal Of Science
Haematological and Demographic Study in Children Infected with Enterobiasis in Al Diwaniyah Province, Iraq
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     Enterobius vermicularis infection is considered as one of the important causes of anaemia and malnutrition among children. This topic has recently received an increased amount of attention.  The objective of this study is to evaluate the demographical, anthropometrical, nutritional, and  haematological status of E. vermicularis infection among children. This study was conducted in Al Diwaniyah province, south of Iraq, for the period of October 2020 to the end of January 2021. The study included 122 children from both genders (males, n= 61, and females, n=61) and their ages ranged between 1 and 14 years. Nutritional status, body mass index (BMI), BMI percentile, and weight- for- age Z score were evaluated for some particip

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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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