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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
Fri Mar 31 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Formulation and Clinical Evaluation of Orphenadrine citrate as a Plain Tablet
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Orphenadrine is an anticholinergic ,antimuscarinic , centrally acting skeletal muscle relaxant .It presents in the form of citrate and HCl salts which are used in treatment of the symptoms of mild Parkinson's disease and also it is used as adjuvant with other drugs in the therapy .

      Many trials were made to formulate Orphenadrine citrate as a plain tablet using wet granulation or direct compression technique in order to get a satisfactory formula through studying the effect of various factors such as binders , diluents and disintegrants types .

    The best formula was obtained by using Poly Vinyl Pyrolidine (PVP) as a binder also the results indicated that starch and mannitol

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Publication Date
Mon Jul 01 2024
Journal Name
World Neurosurgery
Orbital Rhabdomyosarcoma: Comprehensive Review of Epidemiology, Clinical Staging, and Treatment Outcomes
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Publication Date
Thu Sep 15 2022
Journal Name
Bionatura
Chronic Myeloid Leukemia: A retrospective study of clinical and pathological features
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Chronic myeloid leukemia (CML), is one of the myeloproliferative disorders with a characteristic cytogenetic abnormality resulting in the BCR-ABL fusion gene. Imatinib Mesylate is an effective agent for treating patients in all stages of CML. According to the annual Iraqi cancer registry 2019, the total number of chronic myeloproliferative disorders was 338. The percentage and incidence rates were 0.94% and 0.86%, respectively, with a higher incidence rate in males than females (1.12 in males and 0.60 in females). In this registry, no details about CML, so this study aimed to estimate the number of CML patients who attended the national center of hematology from 2005 until 2020 and investigate their epidemiological and clinic-pathol

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Publication Date
Thu May 18 2023
Journal Name
Journal Of Engineering
Optimal Dimensions of Small Hydraulic Structure Cutoffs Using Coupled Genetic Algorithm and ANN Model
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A genetic algorithm model coupled with artificial neural network model was developed to find the optimal values of upstream, downstream cutoff lengths, length of floor and length of downstream protection required for a hydraulic structure. These were obtained for a given maximum difference head, depth of impervious layer and degree of anisotropy. The objective function to be minimized was the cost function with relative cost coefficients for the different dimensions obtained. Constraints used were those that satisfy a factor of safety of 2 against uplift pressure failure and 3 against piping failure.
Different cases reaching 1200 were modeled and analyzed using geo-studio modeling, with different values of input variables. The soil wa

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Publication Date
Fri May 15 2015
Journal Name
Euphrates Journal Of Agricultural Science
Performance Evaluation of field and genetic for genotype selection from Tomato Lycopersicon esculeuntum Mill.
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The study was conducted at the fields of the Department of Horticulture and Landscape Gardening,College of Agriculture, University of Baghdad during the growing seasons of 2013- 2014 .forPerformance of Evaluation Vegetative growth and yield traits and estimate some important geneticparameter on seven selected breed of tomato which (S1-S7 ) Pure line. the results found significantdifferences between breeds in all study trails except clusters flowering number .S1 significantly plantlength which reached 227.3 .Also S1,S2 and S4 were significantly increased the number fruit for plant,Fruit weight Increased in S3 ,S6 and plant yield. Increased in S1, S4 ,S5. Genetic variation valueswere low in Floral clusters , TSS and fruit firmest and medium i

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Publication Date
Wed Aug 30 2023
Journal Name
Al-kindy College Medical Journal
Association of HLA-DRB1/DQB1 Alleles and Genetic Susceptibility to Type 1 Diabetes Mellitus
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Objective: This study was conducted to identify the association of HLA-DRB1/DQB1 genes with the susceptibility or resistance to type 1 diabetes mellitus (T1D) among patients between the ages of five and eighteen.

Subjects and Methods: The study included 200 Sudanese participants, ages ranging from 5 to 18. One hundred participants were healthy non-diabetic as the control group and 100 with T1D as the case group. The investigation was carried out in Khartoum state. The selection of patients with T1D was from diabetic centers and hospitals. The allele-specific-refractory mutation system-polymerase chain reaction (ARMS-PCR) techniq

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Publication Date
Sun Jul 29 2018
Journal Name
Iraqi Journal Of Science
Genetic variation of IRA1 gene in women with gestational diabetes mellitus in Iraq in third trimester stage
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Gestational diabetes mellitus (GDM) is a growing health concern that usually appears during the second and third trimester stage of pregnancy and is characterized by carbohydrate intolerance of variable severity. The aim of the present study was to scrutinize the relationship between the G972R polymorphism of the insulin receptor substrate-1 (IRS-1) gene with GDM in the Iraqi female population. One hundred and twenty of blood samples taken from healthy women (control) and women with gestational diabetes mellitus in 3rd trimester stage of pregnancy, fasting blood glucose (FBG) and HbA1c% measured to diagnose GDM, lipid profile (cholesterol, triglyceride, HDL, LDL, and VLDL), insulin concentration, insulin resistance and beta ce

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Publication Date
Sun Jul 01 2018
Journal Name
Iraqi Journal Of Science
Genetic variation of IRS1 gene in women with gestational diabetes mellitus in third trimester stage in Iraq
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Gestational diabetes mellitus (GDM) is a growing health concern that usually appears during the second and third trimester stage of pregnancy and is characterized by carbohydrate intolerance of variable severity. The aim of the present study was to scrutinize the relationship between the G972R polymorphism of the insulin receptor substrate-1 (IRS-1) gene with GDM in the Iraqi female population. One hundred and twenty of blood samples taken from healthy women (control) and women with gestational diabetes mellitus in 3rd trimester stage of pregnancy, fasting blood glucose (FBG) and HbA1c% measured to diagnose GDM, lipid profile (cholesterol, triglyceride, HDL, LDL, and VLDL), insulin concentration, insulin resistance and beta cell function to

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Publication Date
Fri Jun 30 2023
Journal Name
Journal Of The College Of Education For Women
Knowledge purification of Kindergarten Children
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The research is concerned with the problems of knowledge purification of kindergarten children by verifying its aims, identifying of knowledge purification among the first level of kindergarten children and the second level of kindergarten children, and the differences between the males and females in the variable of knowledge purification. The research community included the children in the state and private kindergartens in Baghdad governorate, on its two sides, Karkh and Rusafa, for the six districts for the academic year 2022-2023. After making the knowledge purification test according to the scientific steps of test constructions, the test has been presented to a group of experts specialized in the field of kindergarten to ascertain

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Publication Date
Sat Dec 30 2023
Journal Name
Iraqi Journal Of Science
Serological relatedness among clinical and environmental Acinetobacter baumannii isolates isolated from hospitals in Baghdad
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During 2011, 1900 clinical specimens (urine, wounds, burns, blood and sputum) and
240 hospital environment specimens were collected from four hospitals in
Baghdad/Medical city including: Baghdad Teaching Hospital, The Martyr Gazi Al-
Hariry Hospital, Welfare Teaching Hospital and The Burn Specialist Hospital. All
specimens were cultured and 128 Acinetobacter baumannii were obtained from
clinical and environmental specimens in a ratio of 6.05% (n=115) and 5.42%
(n=13), respectively. These isolates were identified using microscopic examination,
biochemical tests and Api 20 E system.The slide agglutination technique for rabbit
immune sera and A. baumannii bacteria was used and our data analysis revealed a
serologi

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