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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
Sat Jun 30 2018
Journal Name
Iraqi Journal Of Medical Sciences
CLINICAL UTILITY OF URINARY ANTIGEN TEST AND MOLECULAR METHOD FOR DETECTION OF LEGIONELLA PNEUMOPHILA
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Background: Legionella pneumophila (L. pneumophila) is gram-negative bacterium, which causes Legionnaires’ disease as well as Pontiac fever. Objective: To determine the frequency of Legionella pneumophila in pneumonic patients, to determine the clinical utility of diagnosing Legionella pneumonia by urinary antigen testing (LPUAT) in terms of sensitivity and specificity, to compares the results obtained from patients by urinary antigen test with q Real Time PCR (RT PCR) using serum samples and to determine the frequency of serogroup 1 and other serogroups of L. pneumophila. Methods: A total of 100 pneumonic patients (community acquired pneumonia) were enrolled in this study during a period between October 2016 to April 2017; 92 sam

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Publication Date
Mon Mar 13 2017
Journal Name
Journal Of Baghdad College Of Dentistry
Oral health status in relation to nutritional status among institutionalized autistic children and adolescents in Baghdad city, Iraq
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Background: The autism spectrum disorder (ASD) describes a wide range of symptoms, including difficulty with social interaction and communication skills. Controversial thinking about oral health of children with ASD, in general may have a lower hygiene level than healthy individuals, low caries rate and high body weight in comparison to healthy children. This study was conducted to assess the oral health status in relation to nutritional status among institutionalized autistic children and adolescents. Materials and methods: From 12 institutes in Baghdad, the study group contained 364 child and adolescent with ASD (Male= 294, Female=70), while control group included 441 normal child and adolescent (Male=357, Female=84) from primary and seco

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Publication Date
Tue Jun 30 2009
Journal Name
Al-kindy College Medical Journal
Bloody Diarrhoea anl0ng Children under five years of Age in Tikirit Teaching Hospital
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ObjectiveIs to study the causes of bloody diarrhea in in (50)cases (37%) , Shigella spp in (25) cases (18% and
children under five years of age and to clarify their relations Campylobacter jejuni Icases only (0.75%)
to the type offood and mothers educational level ConciusionBloody diarrehea is common in children under
methods Ahospital based study was carried out at tikreet 5years age who were admitted to Tikreet Teaching Hospital
teaching Hospital in Tikreet city on 133 children who were in Tikreet city , There is astrong positive relationship
admitted to the hospital with bloody diarrehea their ages between the occurrence of bloody diarrehea and the type of
range between one month -5years. The period study is from foo

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Publication Date
Sat Apr 19 2025
Journal Name
Plos One
Early Detection of Autism Spectrum Disorder in Children Using Different Machine Learning Algorithms
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Abstract<p>Autism spectrum disorder(ASD) is a neurological condition marked by impaired communication abilities, social detachment, and repetitive behaviors in individuals. Global health organization facing difficulties in establishing an effective ASD diagnostic system that facilitates precise analysis and early autism prediction. It is a scientific issue that necessitates resolution. This research presents an approach for the early prediction of children with ASD utilizing significant variables through machine learning (ML) methods. Three stages comprise the suggested technique. First, a 1250-case ASD dataset was identified and preprocessed. Five extremely effective traits with high Pearson c</p> ... Show More
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Publication Date
Wed Jan 01 2020
Journal Name
Iraqi Journal Of Veterinary Sciences
Incidence of cutaneous and subcutaneous tumors of dogs from Baghdad city: Clinical, cytological and histopathological features
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The present study was conducted to estimate the incidence, clinical findings, cytological and histopathological characteristics of spontaneously occurring skin neoplasms in dogs. A total of 40 grossly suspected cases of cutaneous and subcutaneous tumors were gathered during the period from July 2016 to August 2018 from male and female dogs in Baghdad city. Dogs with skin neoplasia revealed various clinical signs, and their ages were older than 5 years to 15 years. German shepherd 30% followed by Terrier dogs 25% were more influenced than other breeds. Concerning tumor features, the majority of neoplasms had solitary lesion 70%, regular shapes 65% with black color 55%. The tumors frequently occurred on fore-limbs and abdomen, and 80% of them

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Publication Date
Fri Jun 11 2021
Journal Name
Journal Of Baghdad College Of Dentistry
Traumatic dental injuries in relation to quality of life among school children in Baghdad /Iraq
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Background: One of the significant public health problems is the traumatic dental injury to the anterior teeth, it has a great impact on children’s daily. Physical and psychological disturbance, pain and other negative impacts, such as tendency to avoid laughing or smiling may be associated with traumatic dental injuries, that may affect the social relationships. To determine the occurrence of traumatic dental injuries in relation to quality of life, this study was established among children of primary schools. Material and Methods: A cross-sectional study was conducted among private (574) and governmental (1026) primary school children in Baghdad city. Dental trauma was assessed according to Ellis and Davey classification in1970

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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
Fri Nov 09 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of Mothers Knowledge and Practices with Hemophilic Children type A at Azadi Teaching Hospital in Kirkuk City
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Objective: The study aims to assess the knowledge and practices of mothers with hemophilia children type - A - ,
socio-economic status and association between mother demographic information with their knowledge and practices
toward their children in Azadi Teaching Hospital in Kirkuk.
Methodology: Descriptive study no probability (purposive) sample. Selected Fifty-five of mothers having hemophilia
children, started from November 2012 to May 2013. Study was carried out in the Azadi teaching hospital in
Kirkuk. By using questionnaire which consists from five parts include demographic characteristics for mother and
children, socio-economic, Knowledge and practices data gathered, by direct interview with the mothers in the

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Publication Date
Wed Jan 01 2014
Journal Name
Int. J. Adv. Res
Antibacterial activity of parsley and celery aqueous extract on the isolated bacteria from children UTI in Erbil city‏
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