Preferred Language
Articles
/
GRhJEJUBVTCNdQwCKCV0
Clinical and Genetic Varieties of Gaucher Disease in Iraqi Children
...Show More Authors
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>
Scopus Clarivate Crossref
View Publication
Publication Date
Sun Jan 01 2023
Journal Name
Springer Nature
Clinical and Surgical Aspects of Congenital Heart Diseases
...Show More Authors

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

... Show More
View Publication
Crossref (2)
Scopus Crossref
Publication Date
Thu Jun 29 2023
Journal Name
Journal Of University Of Babylon For Pure And Applied Sciences
Genetic Detection of IMP-1 Gene and its Relationship with Biofilm Formation in Klebsiella pneumonia
...Show More Authors

Background: Klebsiella pneumoniae were considered as normal flora of skin, and intestine. It can cause damage to human lungs; the danger of this bacterium is related to exposure to the hospital surroundings. materials and methods: the detection of Klebsiella pneumoniae on morphological and biochemical tests and then assured with VITEK 2 system. Resistance to antibiotics was determined by Kirby-Baeur method. And genotyping of IMP-1 in isolates was done by PCR technique, then biofilm formation was identified by Micro titer plate method. Results: The present study included a collecting of 50 specimens from different clinical specimens, (blood 40%, urine 30%, sputum 20%, wound infection 10%); 10 isolates were identified as K

... Show More
View Publication
Crossref
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
...Show More Authors

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

... Show More
Publication Date
Thu Jan 02 2025
Journal Name
Journal Of Advanced Pharmacy Education And Research
Review of interleukin-6 polymorphisms in rheumatoid arthritis: a genetic implications
...Show More Authors

The objective review is to inspect the involvement of Interleukin-6 (IL-6) in rheumatoid arthritis (RA) and to highlight the role of IL-6 and its variants in the pathogenesis of RA and response to anti-IL-6 agents. Several genetic and environmental risk factors and infectious agents contributed to the development of RA. Interleukin-6 is engaged in self-targeted immunity by modifying the equilibrium between T regulatory (T-reg) and T helper-17 (Th-17) cells. The evidences reported that IL-6 parti

View Publication Preview PDF
Publication Date
Thu Dec 29 2016
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Genetic diversity of Capsicum annuum L. in local and imported samples in Iraq by using RAPD-PCR
...Show More Authors

Genetic variation was studied in 22 local and imported samples collected from local Iraqi market by using random amplified polymorphic DNA (RAPD-PCR). Five randomly primers set were used in this study. These primers produced 292 bands. Molecular weights of these bands ranged between 1.8 Kb (1800 bp) to 150 bp. The percentage of polymorphic bands is 100%, with one distinguished band which is produced by using C52 primer. The other primers did not produce any distinguished band. The results of Dendrogram of the studied samples depended on RAPD-PCR results by using Jaccard coefficient for genetic similarity was distributed the samples into 8 groups. This Dendrogram revealed a higher similarity between Iraqi/Yousifia green bell pepper and Jo

... Show More
View Publication Preview PDF
Publication Date
Thu Nov 09 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Platelet Activity And Some Immunological Findings In Atherosclerosis and Coronary Heart Disease
...Show More Authors

The   platelet  activity  and  some  immunological  aspects  of

coronary heart disease CIID were investigated by employing platelet count and serum levels of IgG,IgM and lgA,C3 and C4.Three groups of  patients were investigated : patients with ischemic heart disease IHD,  patients  with      lliD+hypcrtension  and  patients  with IHD+unstable angina.The results revealed  that the mean of platelets (mm')  was  significantly  reduced   in  IHD+unstable  angina  group

2.72.L I.l2 compared with conrol b'TOUp 8.13±2.72.

With respect to the immunological study, the re;;ults revea

... Show More
View Publication Preview PDF
Publication Date
Fri Jan 05 2024
Journal Name
Oral Diseases
E-cadherin and TAC in GCF accurately discriminate periodontal health and disease
...Show More Authors

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

... Show More
View Publication
Scopus (2)
Scopus
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
...Show More Authors

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

... Show More
View Publication Preview PDF
Scopus Crossref
Publication Date
Sat Dec 31 2022
Journal Name
Al-kindy College Medical Journal
Molecular Microbiology in Clinical Practice: Current and Future Applications: Molecular Microbiology
...Show More Authors

Technological advances have yielded new molecular biology-based methods for the diagnosis of infectious diseases.  The newest and most powerful molecular diagnostic tests are available at regional and national reference laboratories, as well as at specialized centers that are certified to conduct metagenomic testing.  Metagenomic assays utilize advances in DNA extraction technology, DNA sequence library construction, high throughput DNA sequencing and automated data analysis to identify millions of individual strands of DNA extracted from clinical samples.  At present, metagenomic assays are only possible at a small number of special research, academic and commercial laboratories.  Continued research in human and path

... Show More
View Publication Preview PDF
Crossref (1)
Crossref
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
...Show More Authors

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

... Show More
View Publication Preview PDF
Crossref