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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 Nov 11 2025
Journal Name
Journal Of Baghdad College Of Dentistry
A Clinical Method for Prediction of Alveolar Bone Mineral Density in the Area between the Second Premolar and First Molar in Iraqi Adults with Class I Occlusion
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Background: Orthodontic mini-implants are increasingly used in orthodontics and the bone density is a very important factor in stabilization and success of mini-implant. The aim of this study was to observe the relationship among maximum bite force (MBF); body mass index (BMI); face width, height and type; and bone density in an attempt to predict bone density from these variables to eliminate the need for CT scan which have a highly hazard on patient. Materials and Methods: Computed tomographic (CT) images were obtained for 70 patients (24 males and 46 females) with age range 18-30 years. The maxillary and mandibular buccal cortical and cancellous bone densities were measured between 2nd premolar and 1st molar at two levels from the alveol

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Publication Date
Wed Mar 29 2023
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Correlation of Insulin Like Growth Factor-1 and Insulin-Like Growth Factor Binding Protein with LH, FSH and Testosterone in Iraqi Children with Growth Hormone Deficiency
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Insulin like growth factor-1 has metabolic and growth-related roles all over the body and is strongly associated and regulated by growth hormone. It is produced by almost any type of tissue, especially the liver. The study aimed to measure insulin like growth factor in growth hormone deficient patients and find its relation with other studied parameters. The Subjects in the study were 180 studied in the National Diabetic Center for Treatment and Research/Al-Mustansiriya University in Baghdad/Iraq for the period from November 2021 to April 2022. Blood was drawn and investigated for the levels of IGF-1, IGFBP-3, LH, and FSH. Also testosterone and statistical analysis was carried out to find the potential correlations. The results relived t

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Publication Date
Tue Jan 24 2023
Journal Name
Journal Of Research In Medical And Dental Science
The Wound Healing Potential of Iraqi Origanum majorana L n-Hexane and Ethyl Acetate Fractions in a Rat Model of Excisional Wound Repair: Pre-Clinical Test
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Origanum majorana (Majorana hortensis), an evergreen herbaceous plant belonging to the Lamiaceae family, has been well known for being used for gastrointestinal, cardiac, respiratory, rheumatologic and many other illnesses, but in wounds management hasn’t been qualified scientifically yet. The goal of the study was to evaluate the wound healing properties of sterols in n-hexane and phenols in ethyl acetate extract fractions of the Iraqi Origanum majorana L aerial parts by contrasting their wound healing abilities with those of commercially available MEBO ointment in a rat excised wound repair model. At various periods, the size of the wounds was measured and skin tissue samples were taken for histopathology. When compared to positive and

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Publication Date
Tue Sep 08 2015
Journal Name
Journal Of The Faculty Of Medicine
Sciatic nerve injection injury in children: Management and outcome
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W Tarik A, AW Ali T, Journal of the Faculty of Medicine, 2015 - Cited by 2

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Publication Date
Sat Jul 01 2023
Journal Name
Iraqi Journal Of Veterinary Sciences
Genetic confirmation for morphological identification of Stilesia globipunctata in camel in Iraq
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Publication Date
Sun Jun 30 2013
Journal Name
Al-kindy College Medical Journal
Day Case Tonsillectomy in Children
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Background: Day case surgery has become widely accepted as a safe alternative to the inpatient care in up to 70% of the cases at a children’s hospital. It has the advantage of minimizing the psychological trauma of hospitalization, decreasing nosocomial infection, less costly and frees up hospital beds.Objectives: To assess the advantages and disadvantages of this type of surgery.Methods: this is a prospective study, in which two hundred thirty childhood tonsillectomies were performed as a day-case in the department of otolaryngology at Al Shaheed Gazi hospital, Medical City Complex during the period from October 2009 to September 2010. The patients age range from 3-12 years (Mean 7.2 years).Results: 46.08% males and 53.91% females wer

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Publication Date
Sat Mar 01 2014
Journal Name
Glob. J. Mol. Evol. Genom
Genetic diversity and relationships among Verbascum species in Iraq by RAPD-PCR technique
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Publication Date
Fri Jan 01 2016
Journal Name
Wuhaib, K.m. , Hadi, B.h. , Hassan, W.a. Iraqi Journal Of Agricultural Sciences, 2016, 47(5), Pp. 1151–1165
Some genetic parameter in maize using full diallel crosses
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Scopus
Publication Date
Wed Jan 01 2020
Journal Name
Biochemical And Cellular Archives
EVALUATION OF WATER STRESS EFFECT ON SOME CHEMICAL PROPERTIES OF SEVERAL SUNFLOWER VARIETIES CALLUS TREATED WITH ULTRAVIOLET
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The study was carried out in plant tissue culture laboratory, University of Baghdad during the period 2017-2019, as factorial experiment in complete randomized design, to study the effect of PEG at (0, 2, 4, 6 and 8%) on physiological and chemical changes in callus of three sunflower (Ishaqi 1, Aqmar and Al-haga) induced by the cultivation of the young stem in vitro under water stress. The content of callus cells of SOD, POD, CAT and APX enzymes as well as content of hydrogen peroxide were determined as indicators to determine the effect of PEG in callus tissue cells cultivated on medium equipped with the PEG concentrations. The results showed that cultivars were differs significantly and Al-hajavariety was superior in increasing SOD to 24.

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Scopus (3)
Scopus
Publication Date
Wed Jun 01 2022
Journal Name
Jordan Journal Of Biological Sciences
Comparison of the Folate and Homocysteine Levels with A80G -RFC1 Gene Polymorphism between the Sample of Iraqi Children with and without Down Syndrome
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Many international studies indicated that the polymorphisms of some genes disturbed the folate homocysteine (Hcy) metabolism and increased the vulnerability to Down syndrome (DS). We aimed to measure the serum levels of folate and Hcy in DS children and compare the levels with age and sex-matched apparently normal healthy children. We also aimed to study the A80G polymorphism of the gene reduced folate carrier (RFC1) in the DS children as a risk factor. Forty children with DS (24 were boys, and 16 were girls) with the age range between 5-13 years, and 26 normal healthy children (16 boys and ten girls) were included in this study. The results show that the highest genotype in the control group was AG (53.85%) followed by AA and GG (30.

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