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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
Wed Nov 19 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Periodontal condition in relation to nutritional status among kindergarten children in Al-Ramadi city/Iraq
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Background: Nutrition can affect periodontal disease through contributing to microbial growth in the gingival crevice, affecting the immunological response to bacterial antigens and assisting the repair mechanism of the connective tissue at the local site after injury from plaque and calculus. The aim of this study was to assess the prevalence of Oral hygiene (plaque and calculus) and gingivitis in relation to age, gender and nutritional status. Materials and methods: The sample included (444) kindergarten children at age of (4 and 5 years old) males and females from urban areas in Al-Ramadi city. The assessment of nutritional status was performed using anthropometr

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Publication Date
Wed Nov 19 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Dental caries among kindergarten children in relation to socioeconomic status in Al-Najaf governorate-Iraq
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Background: Dental caries is the most common oral problem, although dental caries is not life threating, it has aharmful effect on quality of life. Socioeconomic factors were found to be strong predictors of the prevalence of oral diseases in children, likes family income, occupational prestige, and education. The aim of this study is to assess the effect of socioeconomic factors on occurrence dental caries in their children. Materials and methods: The sample consists of 550 kindergartens children aged between (4-5) years were selected randomly, girls and boys. The kindergartens selection was randomly from different geographical areas in Al-Najaf governorate. Information was taken from children's parents using questionnaire with the help o

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Publication Date
Wed Jun 15 2022
Journal Name
Journal Of Baghdad College Of Dentistry
Effects of various analgesics on pain perception and rate of tooth movement: a randomized controlled clinical study
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Background: Pain is one of the most reported side effects of orthodontic treatment despite the advanced technology in orthodontics. Many analgesics have been introduced to control orthodontic pain including acetaminophen and selective and nonselective nonsteroidal anti-inflammatory drugs. The great concern about these drugs is their adverse effect on rate of teeth movement. Aims: The purpose of this study was to evaluate and compare the effect of acetaminophen, ibuprofen and etoricoxib on pain perception and their influence on the rate of teeth movement during leveling and alignment stage. Methods: Forty patients were evenly and randomly distributed in a blinded way to one of four groups: placebo (starch capsules), acetaminophen 500mg th

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Publication Date
Wed Nov 19 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Clinical evaluations for the masticatory efficiency of heat cure resin and flexible types of denture base materials
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Background: The aim of this study was for estimation and comparism of masticatory efficiency in patient wearing heat cured acrylic and flexible base partial denture, finding out the role of peanuts and carrots on the measurement of chewing efficiency, and to find out whether the types of P.D. (being single or two opposing each other) has any effect on the masticatory performance. Materials and methods: Twenty partially edentulous patients were selected. Five of these patients were selected having Kennedy class I with no modification against natural dentition, other 5patients having Cl.I against Cl.I . The other 5 patients having Cl.III against natural dentition and the last 5 patients were with Cl.III against Cl.III. several ways were used

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Publication Date
Mon May 01 2023
Journal Name
Complementary Therapies In Medicine
Effects of almond intake on oxidative stress parameters: A systematic review and meta-analysis of clinical trials
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Publication Date
Thu Dec 01 2022
Journal Name
Microbiology And Biotechnology Letters
Production and Identification of Secondary Metabolite Gliotoxin-Like Substance Using Clinical Isolates of <i>Candida</i> spp.
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Publication Date
Fri Sep 15 2023
Journal Name
Technology And Health Care
Clinical management and infection control protocols during the COVID-19 pandemic: An online survey
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BACKGROUND: SARS-CoV-2 (COVID-19) is considered a highly infectious and life threatening disease. OBJECTIVE: The present paper aims to evaluate various aspects of preventive measures and clinical management of the scheduled visits for orthodontic patients to the dental clinics during the outbreak of COVID-19, and to assess how orthodontists dealt with this challenge. METHODS: Orthodontists in private and public clinics were invited to fill a questionnaire that addressed infection control protocols and concerns about clinical management of patients in the clinics during the pandemic. Frequncies and percentages of the responses were obtained and compared using Chi-square tests. RESULTS: About 77% of those working in private clinics, a

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Publication Date
Tue Jul 05 2022
Journal Name
Journal Of Pharmaceutical Care
Epidemiological and Clinical Factors Affecting the Response to Etanercept Among Patients with Rheumatoid Arthritis
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Publication Date
Sun Dec 15 2019
Journal Name
Journal Of Baghdad College Of Dentistry
Maximum bite force in relation to maximum mouth opening among primary school children
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Background: The vertical distance between the upper and lower incisal edge of the central incisors when the mouth is opened as wide as possible is called maximum mouth opening (MMO). Any pathological change in the masticatory system had a direct effect on the maximal mouth opening. The aim of this study was to evaluate the relationship between the maximum bite force and the maximum mouth opening among group of children. Materials and methods: Four hundred children of both genders were included in this study, their age ranged from eight to ten years. Anterior and posterior (right, left) bite force were measured using bite force sensor. Maximum mouth opening was evaluated by electronic digital caliper. Data was statistically analyzed

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Publication Date
Sun Feb 10 2019
Journal Name
Journal Of The College Of Education For Women
Social Medical Care for the Deformed Children: A Field Study in Baghdad City
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The Child is the first sedum for the human society performing, and we deal in our
research to explain the nature of the mutual relations in between the form and the medicine
social caring foundation. So the motherhood and the childhood nowadays become the most
dedicated in the researchers works, whom interesting in the social affairs, and that whom
work in the medicine field as scientists.
So the child is the future man and must be in wright body construction that need to great
care and interest to make him wright mind through capability of performing anything support
to him.
In our research we deal with the main factors in which lead to infect the child by the
creative malfunction, like the environmental and m

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