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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
Tue Jan 30 2024
Journal Name
Iraqi Journal Of Science
Clinical and Histopathological Features of Breast Cancer in Iraqi Patients between 2018-2021
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     Breast cancer (BC) is the most common malignancy in women worldwide and a major cause of cancer-related deaths for women in Iraq. This assignment was created to investigate the characteristics of BC diagnosed in Baghdad from 2018 to 2021. A total of eighty-nine of paraffin embedded tissue blocks of different breast tissue tumors (71 females and 18 males) with their data, were collected from archive of Histopathology Department, Teaching Laboratories of Medical City, Al-Yarmouk Teaching Hospital, and a private laboratory in Baghdad-Iraq. The clinical information regarding age, gender, tumor size, tumor stage and grade, lymph nodes metastasis, in addition to the findings of estrogen receptor (ER), progesterone receptor (PR), human

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Publication Date
Wed Aug 24 2022
Journal Name
European Journal Of Research Development And Sustainability
MONKEYPOX A NEW PANDEMIC DISEASE: IMPLICATIONS FOR CLINICAL PRACTICE AND PUBLIC HEALTH EDUCATION. A REVIEW
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Publication Date
Wed Jan 30 2013
Journal Name
Al-kindy College Medical Journal
Wilson's Disease; Clinical Presentations among Patients Attending Gastroenterology Clinic/ Baghdad Teaching Hospital
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Background:Wilson’s disease (WD) is an inherited
disorder of copper metabolism that is characterized
by tremendous variation in the clinical presentation.
Objective: To assess demographic distribution,
clinical presentations, diagnostic evaluation, and any
association between clinical presentations and other
studied variables of a sample of Iraqi patients with
WD.
Methods: A descriptive cross sectional study with
analytic elements was conducted during 2011, from
the 1st of February till the 10th of June. The sampling
method was a convenient non-random one, carried
out through consecutive pooling of registered WD
patients. A questionnaire-form paper had been
developed for the process of data col

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Publication Date
Sun Jan 31 2016
Journal Name
International Journal Of Research In Humanities, Arts, And Literature
THE PROBLEMS FACING IRAQI CHILDREN IN LEARNING ENGLISH
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DBN Rashid, IMPAT: International Journal of Research in Humanities, Arts, and Literature, 2016 - Cited by 5

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Publication Date
Mon Aug 12 2024
Journal Name
Al-rafidain J Med Sci
Identifying Clinical and Biochemical Predictors of Seizures in Children with Acute Bacterial Meningitis: Insights from a Cross-Sectional Study
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Background: The occurrence of seizures in bacterial meningitis is important, as it has been reported to increase the risk of complications; however, its frequency and predictors are not well studied yet. Objective: To assess the frequency, clinical, and biochemical predictors of seizures in children with acute bacterial meningitis. Method: A cross-sectional study recruited confirmed acute bacterial meningitis cases based on positive CSF culture and sensitivity among children aged 2 months to 15 years admitted to the Central Child Teaching Hospital emergency department in Iraq. Patients were divided into two groups based on seizure at presentation time. Demographic characteristics [age, gender, residence, duration of fever and disease, prese

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Scopus
Publication Date
Tue Dec 01 2020
Journal Name
Cureus
Clinical Descriptive Study of Masturbatory Behavior Among Infants and Preschool Children: A Recent Observation From Iraq
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Publication Date
Thu Mar 30 2023
Journal Name
Iraqi Journal Of Science
The Study of Genetic Variations of GCG Gene and it's Relationship to Obese in Iraqi Population
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The present study conducted on 120 obese males and 50 healthy males, their age ranged from 20-50 years. The patients were divided into 3 groups based on Body Mass Index (BMI) and Central Obesity (CO), it has noticed that there is a significant relation between both indexes. The DNA was isolated from the blood of patients and applies for PCR by using designed primers for exons 1 and 3 of GCG gene. The results showed that there are mutants in exon 1 at locus 9573 (G/C) for 30 patients and locus 9864 (C/-) for 10 patients with X2 = 12.30, also it has fund mutants in exon 3 at locus 5397 (A/G) for 28 patients and locus 5434 (G/A) for 8 patients with X2 = 11.11. These mutants have a high significant effect P≤ 0.001 to cause pathogenicity.

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Publication Date
Fri Nov 24 2023
Journal Name
Iraqi Journal Of Science
Autoantibodies Status in a Sample of Iraqi Celiac Disease Patients
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Fifty celiac disease (CD) patients (21 males and 29 females) with an age range of 2-35 years and 25 apparently healthy controls were investigated for 10 autoantibodies (anti-tissue transglutaminase IgA antibody; ATA, anti-tissue transglutaminase IgG antibody; ATG, anti-gliadine IgA antibody; AGA, anti-gliadine IgG antibody; AGG, anti-nuclear antibody; ANA, anti-double strand DNA antibody; AdsDNA, anti-thyroid peroxidase antibody; ATP, anti-phospholipid antibody; APP, anti-myeloperoxidase antibody; AMP and anti-proteinase 3 antibody; AP3) in their sera. Six autoantibodies (ATA, ATG, AGA, AGG, AMP and AP3) showed significant variations between CD patients and controls. The first four antibodies were not detected in sera of controls, while

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Publication Date
Thu Oct 07 2021
Journal Name
Romanian Neurosurgery
Indirect revascularization in an Iraqi child with Moyamoya Disease
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Background: Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by bilateral stenosis starting at the supraclinoid internal carotid artery (ICA), with the development of a collateral network of vessels. It is an established cause of stroke in the pediatric age group. Despite its increasing prevalence in various parts of the world, it remains largely underrecognized in the Middle East, particularly in Iraq. This is the first case of MMD in an Iraqi patient undergoing surgery. Case description: A 12-year-old boy presents with a 3-months history of progressive behavioural changes. MRI revealed diffuse infarcts of different ages. MRA and CT angiography revealed extensive asymmetrical steno-occlusive changes of t

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Publication Date
Tue Jan 01 2019
Journal Name
Indian Journal Of Public Health Research &amp; Development
Active Ocular involvement in iraqi Patients with Behçet's Disease
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