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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 Dec 05 2010
Journal Name
Baghdad Science Journal
Study of Humoral Immune Response In Children Infected With Visceral Leishmaniasis
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40 blood sample were taken from children infected with kala-azar at age less than ten years, who were admitted to El-Eskan child hospital, and central health laboratory in Baghdad. At the same time 15 sample collected from healthy child for comparing. During research estimated immunoglobulins level ( IgG, IgM, IgA) and (IFAT) IFAT test recorded a higher indicate antibodies level witch was synergistic with infected severity, the stander level of antibodies arrange between 1/16, 1/32 and 1/64 that means it graduate from the lowest one 1/16 into the highest one 1/64 within groups. During infectious the IgG ,IgM level recorded the higher level (2012.9 mg/dl) and (154.3 mg/dl) compared to the control group (874.3 mg/dl),

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Publication Date
Mon Mar 15 2021
Journal Name
Iraqi National Journal Of Nursing Specialties
Feeding Behaviors of Children with Autism Spectrum Disorder in Baghdad City
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Objective(s): To assess the behavior that impedes the eating of children with autism spectrum disorders in Baghdad city, and find out the relationships between the behaviors that impede eating of autistic children and their demographic characteristics.
Methodology: The study started from the period of 16th September 2019 to the 16th of March 2020. A non-probability (purposive) sample of 80 children with autism spectrum disorders was selected. The questionnaire was designed and composed of two parts: the first part includes the autistic children demographic data, the second part includes scales of behavior that impede eating followed by parents towards autistic child. The reliability of the questionnaire was determined through a pilot

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Publication Date
Sat Jan 01 2022
Journal Name
Journal Of Pharmaceutical Negative Results
Environmental effects on intestinal parasitic disease transmission in Mosul governorate
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This study, which was conducted in the city of Mosul, through collected 1200 samples from the stool of patients with diarrhea attending hospitals and private clinics for the period from the beginning of January 2019 to the end of December 2019, those whose ages ranged from less than a year-60 year, and for both sexes and by reality 700 samples stool for males and 500 samples stool for females. Samples were collected in clean, sterile, and sealed 40ml plastic bottles. Patient information is noted, name of the parasite, history, sex, age, address. The result showed that climate and temperature have a significant effect on increase the incidence of intestinal parasites through the direct effect on the increase in infection rate. This effect wa

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Publication Date
Wed Jan 30 2013
Journal Name
Al-kindy College Medical Journal
Regeneration of Pain, Touch, Cold, and Warmth, sensations in split thickness human skin grafts in adults (A clinical study)
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Back ground: Skin grafting is the most common form
of reconstructive surgery, and regeneration of
sensations in skin grafts is a complex process
influenced by many factors such as , the thickness of
the graft, the depth of the grafted bed, meshing of the
graft, the condition of the bed and the surrounding
area. So many studies performed on this subject, some
of them clinically based on subjective type of sensation
tests, and others histological to detect the presence of
nerve fibers in the grafted skin
Objectives: To detect return of sensations to split
thickness skin grafts by clinical methods.
Methods: From Oct. 1995 to Oct. 2010, a clinical
prospective study performed in Al wasity Hospital for

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Publication Date
Tue Aug 01 2017
Journal Name
International Journal Of Agriculture And Biology
Molecular Characterization of a Leaf Curl Disease Infecting Zucchini Squash in Iraq
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Publication Date
Mon Jan 01 2024
Journal Name
Wiadomości Lekarskie
Evaluation of clinical and demographical finding in patients with oral lichen planus: A retrospective cross sectional study
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Aim: To learn more about Oral Lichen Planus Iraqi patients, including their background information, symptoms, and prognosis. Materials and Methods: From the Oral and Maxillofacial Pathology Department, College of Dentistry, Baghdad University, we retrospectively reviewed the medical records of 68 patients with a histologically confirmed clinical diagnosis of oral lichen planus and subsequently contacted the patients by phone to evaluate their prognosis. Results: Females were more likely than males to experience severe pain; the reticular form of Oral Lichen Planus was the most prevalent at 38.2%, but the erosive type was more prevalent among females. Only 53 of 68 patients responded to phone calls. More than 37% of those respondents reporte

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Publication Date
Tue Jan 01 2013
Journal Name
Journal Of Baghdad College Of Dentistry
Clinical and Radiographical Evaluation of Pulpotomy in Primary Molars Treated with Pulpotec ( PD ) , Formocresol and Mineral Trioxide Aggregate ( MTA )
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Publication Date
Sat Nov 15 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Clinical and radiographical evaluation of pulpotomy in primary molars treated with Pulpotec (PD), Formocresol and Mineral Trioxide Aggregate (MTA)
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Background: Pulpotomy is an accepted treatment for the management of cariously exposed pulps in symptom free primary molars to achieve one of the most important goals for Pedodontists, which is the retention of the pulpally involved deciduous teeth healthy until the time of normal exfoliation. The purpose of this study was to evaluate the relative success of pulpotec, formocresol and Mineral Trioxide Aggregate (MTA) in cariously exposed primary molar teeth, using clinical and radiographical examinations. Materials and methods: Thirty nine children with 45 primary molars requiring pulpotomy were selected in this study, 15 teeth treated by each type of pulpotomy medicament. Clinical and radiographical follow up for the patients was performed

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Publication Date
Wed Mar 30 2022
Journal Name
Journal Of Educational And Psychological Researches
Cognitive Distortion And Its Relationship of Parenting Reinforcement For Kindergarten Children
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This research aims to identify the cognitive distortion of kindergarten children and its relationship to their parenting reinforcement. The researcher used the descriptive approach, being the closest to reaching the study objectives, To measure the relationship between the research variables, the researcher prepared two questionnaire tools for this purpose, the first for measuring "cognitive distortion", And the second is to measure "parental reinforcement", and each tool consisted of (20) items.                         

After ensuring the validity and reliability of the two research tools and their suitabi

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Publication Date
Sat Jan 01 2011
Journal Name
Journal Of The College Of Basic Education
Solving Job-Shop Scheduling Problem Using Genetic Algorithm Approach
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