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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 Jul 06 2025
Journal Name
Jordan Medical Journal
Enhancing Adherence and Satisfaction with Disease-Modifying Therapies in Multiple Sclerosis Through Pharmacist-Led Interventions: Interventional Study
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Background: Pharmacists are essential in treating MS. Pharmacists' involvement and patient consultation may improve patient adherence and satisfaction. Aim: To evaluate the influence of pharmacist-led interventions (PLI) on medication adherence and satisfaction in patients with multiple sclerosis receiving disease-modifying therapies (DMTs). Methods: This study was conducted on patients with relapsing-remitting multiple sclerosis who were receiving DMTs and attended a neurological consultant clinic in the medical city of Baghdad. It was a pre-post-intervention study. Each patient underwent two educational sessions: the first session took place at the beginning of the study, after completing the Arabic version of the treatment satisfaction q

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Publication Date
Thu Jun 26 2025
Journal Name
Plos One
Neurologists’ perspectives on management challenges and mitigation strategies for Parkinson’s disease patients: A qualitative study in Iraq
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Background Parkinson’s disease (PD) is currently the fastest-growing neurological disorder in the world. Patients with PD face numerous challenges in managing their chronic condition, particularly in countries with scarce healthcare infrastructure. Objective This qualitative study aimed to delve into neurologists’ perspectives on challenges and gaps in the Iraqi healthcare system that influence the management of PD, as well as strategies to mitigate these obstacles. Method Semi-structured interviews were conducted with neurologists from five different Iraqi provinces, working in both hospitals and private neurology clinics, between November 2024 and January 2025. A thematic analysis approach was employed to identify the main challenge

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Publication Date
Mon Feb 04 2019
Journal Name
Journal Of The College Of Education For Women
Study of Television Advertising and its Impact on Consumer Behavior in a Sample of Children Aged 9-12 Years
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The aim of this study was to study TV advertising and consumer behavior in children and to meet the needs of children. The study included 100 children from Baghdad who were randomly selected from different regions ranging in age from 9-12 years of both males and females. The current research was based on the interview and the completion of special forms prepared for this purpose. This age group was selected for the rare studies conducted on television advertising and limited to different sectors. Data on age and sex were documented, as the results of this study proved The afternoon period was the preferred period for watching the TV show in males, where it was 22%, while the morning period was the female favorite, and it was 23%. The ind

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Publication Date
Wed Jun 17 2020
Journal Name
Journal Of Research In Medical And Dental Science
Impact of Thumb Sucking Habit on Eruption of Permanent Teeth and Intelligence Quotient Among Children in Karbala City, Iraq
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Background: There is a pronounced controversy regarding the dental and mental consequences of thumb sucking habit, which is a familiar nonnutritive pattern of sucking. Commonly, this behavior is harmless, yet those who sustain this pattern may have dental alterations and emotional difficulties. Children’s intelligence level influences their capabilities to judge, evaluate and handle priorities and/or problems profoundly and precisely. Thumb sucking habit might be a manner of liberating the psychological tenseness among several children. Objective: The purpose of this study is to assess the prevalence of thumb sucking habit and its relation to the eruption of permanent teeth and IQ among children aged 6-7 years old. Subjects and methods: I

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Publication Date
Fri May 01 2015
Journal Name
Journal Of Engineering
A Real-Coded Genetic Algorithm with System Reduction and Restoration for Rapid and Reliable Power Flow Solution of Power Systems
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The paper presents a highly accurate power flow solution, reducing the possibility of ending at local minima, by using Real-Coded Genetic Algorithm (RCGA) with system reduction and restoration. The proposed method (RCGA) is modified to reduce the total computing time by reducing the system in size to that of the generator buses, which, for any realistic system, will be smaller in number, and the load buses are eliminated. Then solving the power flow problem for the generator buses only by real-coded GA to calculate the voltage phase angles, whereas the voltage magnitudes are specified resulted in reduced computation time for the solution. Then the system is restored by calculating the voltages of the load buses in terms

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Publication Date
Sun Sep 22 2024
Journal Name
Journal Of Petroleum Research And Studies
Optimizing Gas Lift for Improved Oil Recovery in a Middle East Field: A Genetic Algorithm Approach
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This paper presents a study of the application of gas lift (GL) to improve oil production in a Middle East field. The field has been experiencing a rapid decline in production due to a drop in reservoir pressure. GL is a widely used artificial lift technique that can be used to increase oil production by reducing the hydrostatic pressure in the wellbore. The study used a full field model to simulate the effects of GL on production. The model was run under different production scenarios, including different water cut and reservoir pressure values. The results showed that GL can significantly increase oil production under all scenarios. The study also found that most wells in the field will soon be closed due to high water cuts. Howev

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Publication Date
Tue Mar 01 2022
Journal Name
Results In Engineering
Predictive model for stress at ultimate in internally unbonded steel tendons based on genetic expression programming
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Publication Date
Thu Dec 30 2021
Journal Name
Al-kindy College Medical Journal
Knowledge, Attitude, and Practice of Nurseries' Workers toward Infection Prevention among the Children
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Background: Infections are common in the children attending daycare centers how act as predisposes to it. Hygienic interventions have a fundamental role in infection control and disease prevention in child care settings.

Objective: - To evaluate the knowledge, attitude, and practice of nurseries workers in infection prevention and control among the children.

Subjects and Methods: A cross-sectional study using the researcher-developed questionnaire validated by two experts and piloted and 100 nurseries-workers had participated in it.

Result: the mean age of participants was 37.5 years±12.1, (37%) aged 18-30 yrs, 58% married, and 57% with higher education, 54% of n

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Publication Date
Mon Mar 08 2021
Journal Name
Baghdad Science Journal
Breakfast and its relationship to the curriculum daily diet of school-age children
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The breakfast key components of good nutrition and a large proportion of pupils to Ataatnol her breakfast at home and increase the failure rate breakfast increase the child's age research aims to study the importance of breakfast and emphasize the need to contain aggregates of basic food and its relationship to the curriculum daily diet and its impact on the balance of proteins, fats in food daily as well as the effect of some relevant factors such as the mother's level of education and the number of family members and summarized the most important results in that the percentage of 15.6% Neglected children eating breakfast as well as afternoon that Almaah percentages of calories coming from protein and fat at breakfast .....

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Publication Date
Sun Jul 01 2018
Journal Name
Journal Of Educational And Psychological Researches
Family violence and its impact on the educational achievement of primary school children
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The research included four chapters starting with the chapter dealing with the problem of child abuse which was one of the most important educational and social problems faced by children from their parents or family members. The most common forms of abuse are physical and psychological violence. The problem of school delays is also one of the most important educational and psychological issues that concern educators, which occur because of violence and neglect of the family. The study pointed out that domestic violence is one of the issues that has started to alarm both the global and local communities, because childhood is one of the most important stages of the human development system, which is healthy in terms of physical, mental, p

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