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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
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
Publication Date
Mon Nov 01 2021
Journal Name
Archives Of Razi Institute
RAPD Fingerprinting and Genetic Diversity of Salmonella Spp. Isolated from Broiler and Layer Flocks in Karbala, Iraq
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Salmonellosis in poultry is one of the most significant bacterial infections causing mortality, reduced production, and serious economic losses. This study aimed to study the molecular diversity among Salmonella isolates and investigate the epidemiological spread of these bacteria in broiler and layer chicken flocks in five different farms in Karbala, Iraq, using random amplified polymorphic DNA (RAPD) polymerase chain reaction (PCR). In total, 217 cloac a swabs were collected from the farms, out of which 129 and 88 swabs were taken from broiler and layer chickens. The samples were screened by PCR for S. enterica subsp. enterica using primers specific for the invA gene. Afterward, RAPD-PCR with uniplex or multiplex octamer primers was appli

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Scopus
Publication Date
Wed May 10 2023
Journal Name
Journal Of Engineering
Damage Detection and Assessment of Stiffness and Mass Matrices in Curved Simply Supported Beam Using Genetic Algorithm
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In this study, a genetic algorithm (GA) is used to detect damage in curved beam model, stiffness as well as mass matrices of the curved beam elements is formulated using Hamilton's principle. Each node of the curved beam element possesses seven degrees of freedom including the warping degree of freedom. The curved beam element had been derived based on the Kang and Yoo’s thin-walled curved beam theory. The identification of damage is formulated as an optimization problem, binary and continuous genetic algorithms
(BGA, CGA) are used to detect and locate the damage using two objective functions (change in natural frequencies, Modal Assurance Criterion MAC). The results show the objective function based on change in natural frequency i

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Publication Date
Mon Jun 30 2014
Journal Name
Al-kindy College Medical Journal
The prevalence and antimicrobial sensitivity of Esbl Escherichia Coli. in clinical isolates
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Background: The antimicrobial resistance is one of the most serious and expanding health problems world -wide in the last decades. The esbl escherichia coli. (extended – spectrum beta-lactamase e.coli) represents an important aspect of it .Objectives: To get an overview on the esbl e.coli prevalence profile in general. Also to assess the antibiotic sensitivity of esbl e. coli trying to specify the most effective antibiotics in combating this micro-organism.Methods: this study tries to focus on this problem in Iraq which through a prospective study approach by taking 35 clinical samples from various sources (urine, blood, abscess, eye ,vagina ,stool and others),and after confirming the presence of e.coli, the presence of esbl e.coli and

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Publication Date
Wed Aug 15 2018
Journal Name
Online Journal Of Veterinary Research
Prevalence and type of fungi in milk fromgoats with sub clinical mastitis
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Publication Date
Fri Jan 05 2024
Journal Name
Oral Diseases
E-cadherin and TAC in GCF accurately discriminate periodontal health and disease
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Objective To investigate the accuracy of gingival crevicular fluid (GCF) E-cadherin and total antioxidant capacity (TAC) to discriminate periodontal health from disease. Subjects and Methods GCF samples were collected from participants with periodontal health (control), gingivitis, and periodontitis (n = 25 each group). The latter group was further subdivided according to stage (S) and grade. Periodontal parameters were recorded then levels of biomarkers were assayed using ELISA and antioxidant status by use of the Total Antioxidant Capacity Assay for E-cadherin and TAC, respectively. Results All periodontal parameters were significantly higher in periodontally diseased groups than controls. The GCF E-cadherin significantly increased

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Scopus
Publication Date
Sun Jan 01 2023
Journal Name
Springer Nature
Clinical and Surgical Aspects of Congenital Heart Diseases
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This text and guide discusses the surgical and medical management of congenital heart diseases in both adult and children. It describes the disease, pathology, treatment, complications and follow-up with extensive use of didactic material to educate the reader to the practicalities of the subject. It details the novel research via an extensive literature review, while covering all aspects of the surgical and medical treatment of congenital heart disease. It includes review of the laparoscopic techniques and epidemiology of each disease involved and their prevalence to provide the reader with the full clinical picture. Clinical and Surgical Aspects of Congenital Heart Diseases: Text and Study Guide provides a thorough practical reference fo

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Publication Date
Sun Nov 01 2015
Journal Name
Journal Of Cosmetics, Dermatological Sciences And Applications
Clinical and biochemical evaluation of facial acanthosis nigricans
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KE Sharquie, AA Noaimi, HG Mahmood, SM Al-Ogaily, Journal of Cosmetics, Dermatological Sciences and Applications, 2015 - Cited by 6

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Publication Date
Sat Jun 19 2021
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Serum Chitotriosidase level as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis among the Iraqi children
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Background: Cystinosis is a rare autosomal recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation. It is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage. The diagnosis can be missed in infants, because not all signs of renal Fanconi syndrome are present during the first months of life. Elevated white blood cell cystine content is the cornerstone of the diagnosis. Since chitotriosidase (CHIT1 or chitinase-1) is mainly produced by activated macrophages both in normal and inflammator

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Publication Date
Sun Nov 15 2020
Journal Name
​​​​arabian Journal Of Scientific Research
Isolation and characterization of Candida glabrata from clinical specimens in some hospitals in Baghdad
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This study aimed for isolation and identification of Candida glabrata and identifying some virulence factors. The distribution of patients with candidemia thrush showed that the age group 50-65 years old recorded the highest incidence of candidiasis in female and male with leukemia by 50% and 37.9 % respectively compared to the lowest incidence of candidiasis in the age group under 17 years old in female and male 8.8% and 13.5%, respectively. While the age group between 5-8 years was high, reaching 18 cases of oral candidiasis and 42% of children with leukemia compared with the age group, which was the least, that reached 9 cases, 21%. The highest incidence of C. glabrata was 59 isolates of females and males with leukemia, while C. kefyer w

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