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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 Jun 30 2023
Journal Name
The International Tinnitus Journal
Is Topical Nasal Steroid Useful for Treatment of Otitis Media with Effusion in Children?
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Background: Otitis media with effusion is a common and important pediatric clinical problem; it is the leading cause of hearing impairment in children. Medical treatment remains controversial. Aim: To evaluate the usefulness of using topical nasal steroids in the treatment of otitis media with effusion. Patients and Methods: Between November 2019 and October 2022, a prospective controlled clinical study was carried out in the department of otolaryngology at Al-Jerrahat Teaching Hospital in Medical City, Baghdad, Iraq. This study comprised 40 patients with bilateral otitis media with effusion (23 males, 17 females). Two groups were created for the patients. Patients in group A (20 patients) were treated with mometasone furoate nasal spra

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Publication Date
Fri Dec 14 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Effect of Electronic Games on Children Behaviors who Attending Teaching Hospitals in Baghdad City
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Objective(s): current study aims to find the effect of electronic games on children's behavior, and find the
relationship between child demographic data and the effect of electronic games on the child's behavior.
Methodology: A descriptive-analytic study was conducted for assessing the Effect of electronic games on
children's behaviors that attending to teaching hospitals in Baghdad city during the period of (October/ 20th
/2017 to March/1st /2018). A (50) purposive (non- probabilistic) sample from: Child Protection teaching
Hospital, Child Central Hospital in AL-Iskan. The sample is selected according to the criteria: Children who
visited the consulting unit of children in the hospitals in the first visit, children in

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Publication Date
Sat Oct 31 2020
Journal Name
International Journal Of Psychosocial Rehabilitation
Attitudes of mothers towards over the counter antibiotics for their children in Baghdad city
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Publication Date
Fri Aug 29 2025
Journal Name
Scr Med
Balloon Angioplasty in the Treatment of Children With Native Aortic Coarctation: Is Reintervention Predictable?
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Reintervention after balloon angioplasty is often considered inevitable in children with coarctation of the aorta (COA). The present study aimed to evaluate predictors of re-intervention after balloon angioplasty for COA, with the goal of identifying patient and procedural characteristics that may influence long-term outcomes

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Publication Date
Tue Sep 10 2019
Journal Name
Periodicals Of Engineering And Natural Sciences (pen)
A classification model on tumor cancer disease based mutual information and firefly algorithm
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Publication Date
Wed Sep 01 2021
Journal Name
Baghdad Science Journal
Coronavirus Disease Diagnosis, Care and Prevention (COVID-19) Based on Decision Support System
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              Automated clinical decision support system (CDSS) acts as new paradigm in medical services today. CDSSs are utilized to increment specialists (doctors) in their perplexing decision-making. Along these lines, a reasonable decision support system is built up dependent on doctors' knowledge and data mining derivation framework so as to help with the interest the board in the medical care gracefully to control the Corona Virus Disease (COVID-19) virus pandemic and, generally, to determine the class of infection and to provide a suitable protocol treatment depending on the symptoms of patient. Firstly, it needs to determine the three early symptoms of COVID-19 pandemic criteria (fever, tiredness, dry cough and breat

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Publication Date
Wed Jan 12 2022
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Evaluating the Impact of Pharmacist Counselling for Asthmatic Children at Karbala Teaching Hospital for Children: An Interventional Prospective Study (Conference Paper )#
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Asthma is one of the most common chronic, non-communicable diseases affecting children worldwide. The estimated prevalence of pediatric asthma in Iraq is 15.8%. Physiologic, inflammatory and structural factors contribute to the development of asthma. Assessment and monitoring of asthma control can be done by a validated children asthma control test (CACT). Management of asthma must address three components which are an appropriate management plan, the most appropriate medication if necessary, and the use of safe and effective medication. The management plan should consider patient counseling and education about the definition of asthma, signs, and symptoms, the pathophysiology of asthma, common triggers for asthma and how can avoid them,

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Publication Date
Sun Jun 10 2018
Journal Name
Annals Of Clinical And Analytical Medicine
Lead among children with autism in Iraq. Is it a potential factor?
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Abstract Aim: Autism is a neurodevelopmental disorder which affects communication and social interaction of children. It is a heterogeneous disease with various clinical presentations. Some genes are involved in its pathogenesis. It has been suggested that environmental exposure to lead can increase the risk of autism. The aim of our study was to compare blood lead levels among autistic and non-autistic children. Material and Method: This retrospective study included 107 children (60 with autism and 47 without autism) referred from the different Iraqi provinces, in the years 2015, 2016 and 2017, to the poisoning consultation center in Baghdad. Data collection including age, gender, residence, referral source, family history and blood lead l

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Publication Date
Wed Sep 25 2024
Journal Name
Dentistry 3000
Maximum mouth opening measurement in relation to maximum bite force among children
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Objective: This research aimed to study the relation between maximal bite force (MBF) and maximum mouth opening among 12-year-old school children. Methods: In this cross-sectional study, a total of 400 children aged 12 years (194 boys and 206 girls) were examined. The MBF for the right and left side, as well as the anterior region, were evaluated for all children. The MMO was measured using an electronic digital caliper. To analyze the data path analysis method was used. Results: Boys showed a higher MMO of 48.797 ± 6.500 than girls (46.710 ± 5.926 mm). The MMO increased with increasing MBF, with significant differences between females and males. Conclusion: The MMO was higher in boys than in girls. Gender plays a significant ro

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Publication Date
Sun Jul 01 2018
Journal Name
The Iraqi Postgraduate Medical Journal
Molecular and Serologic Detection of HLA-B27 among Ankylosing Spondylitis Patients with Some Clinical Correlations
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BACKGROUND: HLA-B27 can effect clinical presentation and course of ankylosing spondylitis. Different detection techniques of HLA-B27 are available with variable sensitivities and specificities. OBJECTIVE: To compare serologic and molecular diagnostic techniques of detecting HLA-B27 status and to correlate it with some clinical variables among ankylosing spondylitis patients. PATIENTS AND METHODS: A cross-sectional study was conducted on 83 Iraqi patients with ankylosing spondylitis. Clinical and laboratory evaluations were reported. HLA-B27 status was determined in all patients by real-time PCR using HLA-B27 RealFast™ kit; ELISA method was used as well to detect soluble serum HLA-B27 antigens using Human Leukocyte Antigen® kit. RESULTS:

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