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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
Wed Jan 01 2025
Journal Name
Journal Of Advanced Biotechnology And Experimental Therapeutics
Effect of fungal microbiota on RANKL and sclerostin in patients with Crohn's disease
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The etiology of Crohn's disease (CD) is still unknown. However, many factors, including a dysregulated immune system, altered microbiota, inheritance, and environmental factors, have been implicated. This work was conducted to estimate the effect of fungal microbiota on two bone mineral density markers, RANKL and sclerostin, in addition to the correlation between these markers and vitamin B12, D3, and zinc in CD patients, along with their potential effect on fungal microbiota and vice versa. Peripheral blood and carry-Blair Stool samples were collected from 88 participants (60 newly diagnosed with CD without treatment and 28 healthy controls) to detect serum levels of RANKL and sclerostin, and culture media were used to grow, isolat

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Publication Date
Mon Jul 01 2024
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Evaluation of some Biochemical and Hematological Parameters in Patients with Chronic Kidney Disease
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Background: Chronic kidney disease is a condition that results from an indefinite change in the structure and function of the kidneys. A slow, steady progression characterizes it and is irreversible.  Objectives: This study aims to evaluate the findings of certain biochemical and hematological tests in samples from Iraqi CKD patients.  Methods: This study included 90 subjects, where 70 patients with chronic kidney disease and 20 healthy individuals. Blood samples were collected from the patients during their visits to Ghazi Al-Hariri Surgical Specialties' Hospital- Medical City, Baghdad, Iraq. Age, sex and body mass index were assessed for each participant followed by renal function tests [serum blood urea, creatinine, uric acid a

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Publication Date
Mon Feb 01 2021
Journal Name
International Journal Of Electrical And Computer Engineering (ijece)
Features of genetic algorithm for plain text encryption
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The data communication has been growing in present day. Therefore, the data encryption became very essential in secured data transmission and storage and protecting data contents from intruder and unauthorized persons. In this paper, a fast technique for text encryption depending on genetic algorithm is presented. The encryption approach is achieved by the genetic operators Crossover and mutation. The encryption proposal technique based on dividing the plain text characters into pairs, and applying the crossover operation between them, followed by the mutation operation to get the encrypted text. The experimental results show that the proposal provides an important improvement in encryption rate with comparatively high-speed Process

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Publication Date
Sun Mar 07 2010
Journal Name
Baghdad Science Journal
Genetic study of Salmonella spp. Producting Betalatimase (ESBLs)
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Ten isolates were collected from different clinical sources from laboratory in medicine century . These isolates were belonging to the genus Salmonella depending on morphological and biochemical tests . The antibiotic scussptibility tests against 10 antibiotics were examined , and it was found that the 60% isolates have multiple resistant to antibiotic ,(70%) of isolates were resistant to ampicillin,(50%) were resistant to augmentin ,(40%) were resistant to ceftriaxone ,(20%) were resistant to cefotaxime and (10%) were resistant to ciprofloxacin and tetracycline while all isolates showed sensitivity to piperacillin, imipenem, amikacin and erythromycin .The ability of Salmonela isolates to produce ?-lactamase enzymes were tested usin

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Publication Date
Tue Mar 19 2019
Journal Name
Tikrit Journal For Agricultural Sciences
Dependence and Phenotypic and Molecular Labels in Estimations of Genetic of Variance of Some Genotypes of Corn (Zea mays L.)
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Afield experiment was conducted in the college of Agriculture labs Sulaimanya University in 2014 to estimate the genetic variance between 12 genotypes of maize. (SSR) technology was used depending on (PCR) technology. Twenty primers were used for the genetic variance analysis between the studied genotypes and 15 primers showed polymorphic results in repeated experiment caused to experinse 52 alleles which gave 307 bands of range 3.1 by different molecular sizes ranged between 80-1000 pair base the value of PIC reached to phi069 gave high value (0.8785), the range of genetic diversity for studied genotypes reached to (0.625) gave primers pairs phi069 hig value for genetic diversity (0.888). The value of total allele replication ranged at pri

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Publication Date
Sun Jun 30 2013
Journal Name
Al-kindy College Medical Journal
Clinical and Doppler Study of Restrictive Filling Pattern in Patients with Dilated Cardiomyopathy
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Background: Dilated cardiomyopathy (DCM) is a well-recognized cause of cardiovascular morbidity and mortality.Objectives: To evaluate the prognostic implications of the restrictive left ventricular filling pattern (RFP) in dilated cardiomyopathy.Methods: Patients with DCM admitted to Ibn AL-Bitar Hospital for Cardiac Surgery, Baghdad-Iraq, from May 2006 to August 2008, underwent a full clinical evaluation and Doppler echocardiography study. Patients were classified into three groups: Group I had persistent restrictive filling pattern; Group II had reversible restrictive filling pattern; and Group III had nonrestrictive filling pattern. Results: The current study was conducted on a total number of 80 patients with DCM, fifty (62.5 %) were

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Publication Date
Tue Feb 26 2019
Journal Name
Journal Of Contemporary Medical Sciences
Demographic and clinical profiles of female patients diagnosed with breast cancer in Iraq
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Objective To highlight the main demographic characteristics and clinical profiles of female patients registered with breast cancer in Iraq; focusing on the impact of age.Methods This retrospective study enrolled 1172 female patients who were diagnosed with breast cancer at the Main Center for Early Detection of Breast Cancer/Medical City Teaching Hospital in Baghdad. Data were extracted from an established information system, developed by the principal author under supervision of WHO, that was based on valid clinical records of Iraqi patients affected by breast cancer. The recorded information regarding clinical examination comprised positive palpable lumps, bloody nipple discharge, skin changes, bilateral breast involvement, tumor

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Publication Date
Tue Sep 01 2020
Journal Name
Asian Journal Of Pharmacy And Pharmacology
Clinical manifestations and maternal outcomes of COVID-19 in pregnancy: A systematic review
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Publication Date
Wed Jan 01 2020
Journal Name
Annals Of Tropical Medicine And Public Health
The role of electrolytes and inflammatory biomarkers in the development of febrile seizure in children
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Publication Date
Mon Jun 30 2014
Journal Name
Al-kindy College Medical Journal
The Role of Interleukine-33 in Inflammatory Bowel Disease
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The inflammatory bowel disease (IBD), Crohn’s disease (CD) and ulcerative colitis (UC) are heterogenous chronic inflammatory disorders of the gastrointestinal tract. The most widely accepted etiopathogenic hypothesis for these disorders suggests an immune mediated process.
Objective: This study was performed to evaluate the role of interleukine-33 in pathogenesis of inflammatory bowel disease and to correlate their levels with the disease activity and/or severity.
Methods: Fifty five subjects with inflammatory bowel disease (41 ulcerative colitis patients and 14 Crohn’s disease patients) their ages range from 16-65 years and 25 apparently healthy volunteers their ages and sexes were matched with the patients were participated i

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