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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 Mar 01 2025
Journal Name
Cytokine
Role of Interleukins-8, -17 and -22 in Iraqi postmenopausal women with Osteoporosis
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Osteoporosis (OP) is a systemic skeletal disease characterized by low bone mineral density and deterioration of bone architecture, resulting in bone strength reduction and increased fracture susceptibility. Estrogen deficiency in post-menopausal women is possibly responsible for the instability between bone formation and resorption, which is managed by specific osteoclastogenic cytokines that may be leading to resorption. This study aims to estimation of the concentrations of interleukins −8, −17, −22, beside to certain parameters in blood serum and explained their roles in the development of osteoporosis pathogenicity in postmenopausal women. Materials and Methods A case-control study included 108 Iraqi postmenopausal women participa

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Publication Date
Mon Oct 31 2022
Journal Name
Periodicals Of Engineering And Natural Sciences (pen)
The adoption of green management in Iraqi construction industry: The challenges and benefits
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Publication Date
Thu Jun 08 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Detection of BRAF Gene in Some Iraqi Bowel Inflammation and Colorectal Cancer Patients
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The impacts of the inflammatory process on neoplasia development were observed in many cancer, it has a great role in the etiology, development and progression of invasive colorectal tumors. This study was designed to investigate the BRAF mutation and assist the clinicopathological parameter in some Iraqi bowel inflammation and colorectal cancer patients. Thirty patients were enrolled in this study (15 suffering bowel inflammation and 15 having colorectal cancer). BRAF gene was screened for the presence of mutations using PCR technique and direct  sequencing. .The results revealed no BRAF mutation in position 1799 for exon fifteen in both samples of bowel inflammation and colorectal cancer. These results were confirmed previous arti

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Publication Date
Sat Jun 15 2024
Journal Name
Journal Of Legal Sciences
Scientific chairs of Iraqi universities and their role in achieving sustainable development goals
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تهدف الدراسة إلى استعراض ظهور كراسي اليونسكو في الجامعات العراقية والأنشطة التي تم تنفيذها لتحقيق أهداف التنمية المستدامة، حيث تم إنشاء كل كرسي لتحقيق أحد هذه الأهداف التي تركت أثرها على بعض القطاعات التعليمية والاجتماعية ، وبالتالي تنبع أهمية الدراسة من الحاجة إلى الإشارة إلى إنشاء كراسي اليونسكو في الجامعات العراقية والأنشطة التي عززت إنشائها ونشاطها ومبادراتها المحلية والدولية, وكذلك تحديد ما حقق

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Publication Date
Thu Dec 29 2016
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
The Morphology and Palynology Study of Dionysia odora Fenzl. (Primulaceae) in Iraqi-Kurdistan
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The present research deals with the species Dionysia odora Fenzl.
(sy noname:Dionysia michauxii) it covers all its attributed and detailed. The plants are studied
in the college of A griculture/University of Sulaimaniya Herbar ium. The Palynology, Ecology
was given also. The sp ecimens of the plant collected and identified by Saman Abdulrahmad
Ahmad.

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Publication Date
Fri Nov 09 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Screening Program for Idiopathic Scoliosis by Adam's Bending Forward Test of Prepubertal Children at Primary Schools in Baghdad City
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Objective: The study aimed to screen the prepubertal children for idiopathic scoliosis at earlier stages, and find
out the relationship between idiopathic scoliosis and demographic data such as age, sex, body mass index,
heavy backpacks, and heart & lung diseases.
Methodology: A descriptive study was conducted on screening program for prepubertal children in primary
schools at Baghdad city, starting from 24th of February to the end of October 2010. Non- probability
(purposive) sample of 510 prepubertal children were chosen from primary schools of both sides of Al-Karkh
and Al-Russafa sectors. Data was collected through a specially constructed questionnaire format include (24)
items multiple choice questions, and

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Publication Date
Mon Jun 23 2025
Journal Name
Mustansiriya Medical Journal
The Pattern Of Skin Diseases Among Kindergarten Children In Baghdad. A Comparative Study Between Two Surveys Five Years Apart
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Publication Date
Fri Nov 09 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Impact of Education Program upon Nurses' Knowledge towards Children under Mechanical Ventilation at Pediatric Teaching Hospitals in Baghdad City
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Objective: impact of the education program for nurses' knowledge toward children under mechanical
ventilation, and to find out the relationships between nurses' knowledge and their general information.
Methodology: Quasi experimental study was carried out at the respiratory care units of Baghdad
Pediatric Teaching Hospitals started from February15th, until September 26th, 2011, A purposive (nonprobability)
sample of (23) nurses working in the respiratory care units, were selected from Children
Welfare and Pediatric Central Teaching Hospitals. The data were gathered through using of the
constructed multiple choice questionnaire using to evaluate the nurses knowledge using checklist, The
questionnaire consists of two p

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Publication Date
Tue Feb 22 2011
Journal Name
Journal Of College Of Education
Partially purification of alanine aminopeptidase from serum of type II diabetic patients with cardiac disease
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This studay was performd on 30 serum specimens of patients having type II diabetes with cardiac disease, and 40 normal specimens were investigated as control group.The activity rate of AAP in patients (125.31± 3.28)I.U/L and activity rate of AAP in normals (6.76±2.21) I.U/L, in addition purification of AAP from serum patients having type II diabetes with cardiac diaease by using dialysis bag and gel filtration (Sephadex G-50). The results of the study reveal that Alanine aminopeptidase (AAP) activity of type II diabetes with cardiac disease patients' serum show a high signifiacant increase (p<0.001) compare to normal subject .

Publication Date
Tue Jul 11 2017
Journal Name
The 39th Annual International Conference Of The Ieee Engineering In Medicine And Biology Society (embc'17)
Higuchi fractal dimension of the electroencephalogram as a biomarker for early detection of Alzheimer's disease
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It is widely accepted that early diagnosis of Alzheimer's disease (AD) makes it possible for patients to gain access to appropriate health care services and would facilitate the development of new therapies. AD starts many years before its clinical manifestations and a biomarker that provides a measure of changes in the brain in this period would be useful for early diagnosis of AD. Given the rapid increase in the number of older people suffering from AD, there is a need for an accurate, low-cost and easy to use biomarkers that could be used to detect AD in its early stages. Potentially, the electroencephalogram (EEG) can play a vital role in this but at present, no reliable EEG biomarker exists for early diagnosis of AD. The gradual s

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