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GRhJEJUBVTCNdQwCKCV0
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
Thu Jul 11 2024
Journal Name
Maaen Journal For Medical Sciences
Pharmacological Supplements Efficacy in Management of chronic pain associated with Sickle Cell Disease: A narrative review
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Sickle cell disease (SCD) is a hereditary ailment that can cause severe pain and suffering to people who are affected. However, with continued investment in research and treatment options, we can make progress towards improving the lives of those with SCD. Over 40% of patients experience painful vaso-occlusive crises (VOCs), so we must work towards finding solutions and providing support for those living with this condition, These episodes, a hallmark of SCD, significantly contribute to morbidity, mortality, and a diminished quality of life, while also incurring substantial healthcare costs. Chronic pain particularly affects older adolescents and adults with SCD, with over half reporting daily discomfort. Opioid-based analgesics, though sti

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Publication Date
Thu Oct 02 2025
Journal Name
Journal Of Babylon Center For Humanities Studies
The reflection of the Arab character in Israeli children&#39;s literature in the years 1990 - 2015
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Publication Date
Thu Oct 02 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Dental caries and treatment needs among 12 year-old school children in Heet city/Al-Anbar governorate/Iraq
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Background: Dental caries is one of the most prevalent chronic diseases of people worldwide that lead to the pain and disability across all age groups and still consider as a major cause of tooth loss. The aim of this study was to assess the prevalence and severity of dental caries and treatment needs among school children in Heet city. Materiales and methods: The sample included all school children at age of (12 years old) males and females from urban areas in Heet city. Diagnosis and recording of dental caries and treatment needs were done according to the criteria of WHO. Results: The prevalence of dental caries was (90.2%). The DMFS/dmfs values were (5.85±0.168, 1.57±0.146) respectively for the total sample. Females were foun

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Publication Date
Fri Nov 09 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Assessment of Severity of Anemia Among Children Under 5 Years
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Objective(s): The aim of this study was to assess the severity of anemia among children under 5 years and to find
out relationship between severity of anemia in children with socio-demographic variables such as: child gender,
age, supplement diet, hookworm, pica, parent's education level, father's and mother's occupation, and family
monthly income with severity of anemia
Methodology: A descriptive cross sectional study was conducted at the primary health care centers in Alsadr city
for the period of 1
st July 2011 to the 1st November 2011.Non probability (purposive) sample of (630) children who
aged under 5 years and who attended to primary health care centers of Alsadr city. The data were collected
through using

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Publication Date
Fri Sep 27 2019
Journal Name
Journal Of Baghdad College Of Dentistry
The effects of thumb sucking habit on the development of malocclusions in preschool age children in Hilla city
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Background: habit is any purposeless action repeated unconsciously. It is a sign of lack of harmony between the subject and the surrounding environment. Deleterious oral habits such as finger sucking could be one of the etiological factors for altered oro-facial growth development. This study conducted to explore the association between finger sucking habit and malocclusion in deciduous dentition. Materials and method: Totally 40 chronic thumb sucker and 40 controls matching in age and gender were enrolled in the study. A study conducted by verifying different occlusal trait through the intra-oral examination. Thumb sucking habit diagnosed using data gathered from parents. Results: The statistical analysis showed a highly significant dif

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Publication Date
Fri Jun 01 2018
Journal Name
Kerbala Journal Of Medicine
Polymerase Chain Reaction Testing in Comparison to Culture of Cerebrospinal Fluid for Diagnosis of Bacterial Meningitis in Children
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Publication Date
Thu Oct 02 2025
Journal Name
Journal Of Baghdad College Of Dentistry
The benefit of Ramfjord teeth to represent the full-mouth clinical attachment level in epidemiological study
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Background: Since the periodontal disease Index of Ramfjord (Ramfjord index) can potentially shorten the examination time by almost half, many studies evaluated Ramfjord teeth in predicting full-mouth periodontal status of an adult population. The aim of this study was to evaluate the benefit of Ramfjord teeth in predicting the full-mouth clinical attachment level of an adult population in patients attending the college of dentistry- Baghdad University. Materials and methods: The study participants were 100 patients with age range from 30-60 years old which represent group zero. The patients were divided into three main groups according to the age of the patients. Group I and group II each of them composed of 30 patients while group III co

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Publication Date
Mon Jan 08 2024
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Recurrence Rate of Pleomorphic Adenoma in Minor Salivary Glands After Surgical Excision: A Retrospective Clinical Study
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Background: Pleomorphic adenoma of the minor salivary gland is a rare benign tumor. It commonly occurs in the hard and soft palates. Treatment by surgical excision achieved success in improving the patient’s health. Objective: To evaluate the recurrence rate after surgical treatment of pleomorphic adenoma in minor salivary glands. Methods: This retrospective study included patients who attended the Maxillofacial Surgery Unit in Ghazi Al-Hariri Hospital, Baghdad, from 2019 to 2021, complaining of soft tissue lumps involving the soft and hard palate, buccal mucosa, and upper lip. After the provisional diagnosis of these lesions, a total surgical excision of the tumor with a safe margin of 1 mm was performed, and the biopsy was sent

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Publication Date
Mon Jan 08 2024
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Recurrence Rate of Pleomorphic Adenoma in Minor Salivary Glands After Surgical Excision: A Retrospective Clinical Study
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Background: Pleomorphic adenoma of the minor salivary gland is a rare benign tumor. It commonly occurs in the hard and soft palates. Treatment by surgical excision achieved success in improving the patient’s health. Objective: To evaluate the recurrence rate after surgical treatment of pleomorphic adenoma in minor salivary glands. Methods: This retrospective study included patients who attended the Maxillofacial Surgery Unit in Ghazi Al-Hariri Hospital, Baghdad, from 2019 to 2021, complaining of soft tissue lumps involving the soft and hard palate, buccal mucosa, and upper lip. After the provisional diagnosis of these lesions, a total surgical excision of the tumor with a safe margin of 1 mm was performed, and the biopsy was sent for hist

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Publication Date
Wed Mar 24 2021
Journal Name
Journal Of Research In Medical And Dental Science
Efficacy of Oregano Essential Oil Mouthwash in Reducing Oral Halitosis: A Randomized, Double-Blind Clinical Trial
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Efficacy of Oregano Essential Oil Mouthwash in Reducing Oral Halitosis: A Randomized, Double-Blind Clinical Trial, Mohamed Saeed M Ali, Ayser Najah Mohammed*

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