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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 Aug 01 2018
Journal Name
Parasitology International
Genetic polymorphism of Baylisascaris procyonis in host infrapopulations and component populations in the Central USA
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Publication Date
Tue Jan 01 2019
Journal Name
World Journal Of Dentistry
Facial Fractures in Preschool- and School-aged Children
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Aim: The purpose of this study was to analyze the patterns of facial fractures in children and to compare them between preschool- and school-aged children. Materials and methods: This retrospective observational study included 57 children with facial fractures. The variables analyzed were the age of the patients—divided into a preschool-aged group (0–5 years) and a school-aged group (6–12 years)—gender, cause of trauma, the facial bones involved, the pattern of fracture, the modality of treatment used, the time between injury and treatment, and the postoperative complications. Results: The incidence of facial fractures in children ≤12 years was 30.2%. The patients consisted of 40 (70.2%) males and 17 (29.8%) females, and most pati

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Publication Date
Fri Jan 01 2016
Journal Name
Engineering And Technology Journal
Face Retrieval Using Image Moments and Genetic Algorithm
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Publication Date
Sun Jun 03 2007
Journal Name
Al-kindy College Medical Journal
Parental perception of fever in children
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Back ground : Fever is a common medical problem in children. parents have been shown unrealistic fears of harmful effects of fever in their children. Resulting in inappropriate management of fever in their children. Objective: the objective of this study was to survey parents about their knowledge andattitude concerning fever in their children. Methods : The study involved random selection of parents who brought their febrile children to emergency department or out-patient clinics of five teaching and non teaching hospitals in Baghdad from first of October to end of December 2002. Parents of 400 febrile children were interviewed using a standard questionnaire to obtain sociodemographic information and current knowledge of fever. Results: Ap

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Publication Date
Sat Jun 30 2007
Journal Name
Al-kindy College Medical Journal
Parental Perception of Fever in Children
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Back ground : Fever is a common medical problem in
children. parents have been shown unrealistic fears of
harmful effects of fever in their children. Resulting in
inappropriate management of fever in their children.
Objective: the objective of this study was to survey
parents about their knowledge andattitude concerning fever
in their children.
Methods : The study involved random selection of
parents who brought their febrile children to emergency
department or out-patient clinics of five teaching and non
teaching hospitals in Baghdad from first of October to end
of December 2002.
Parents of 400 febrile children were interviewed using a
standard questionnaire to obtain sociodemographic
informatio

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Publication Date
Mon Nov 02 2020
Journal Name
International Journal Of Pharmaceutical Research
Serum Afamin As A Novel Biomarker for Non-Alcoholic Fatty Liver Disease as A Complication of Hypothyroidism in Iraqi Patients.
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Publication Date
Mon Oct 14 2024
Journal Name
Urolithiasis
The safety and efficacy of miniaturized percutaneous nephrolithotomy in children
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To assess the use of miniaturized percutaneous nephrolithotomy (mini-PCNL) for renal stones in children, as well as its safety and efficacy. Seventy-seven patients with more than 15 mm renal stones whose age was less than 15 years were enrolled in this prospective case-controlled study at Al-Ramadi Teaching Hospital, Ar Razi Private Hospital, and Ghazi Al-Hariri Hospital for Surgical Specialties, Anbar and Baghdad, Iraq. The study was conducted from January 2020 to January 2024. The group mentioned above served as group A, and it was compared to the control group (group B), which consisted of 70 adult patients aged 18–60 years. Patients in both groups underwent mini-PCNL. Gender, stone size and location, time of operation, stone-free rate

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Publication Date
Wed Mar 16 2016
Journal Name
The Iraqi Journal Of Agricultural Sciences
PERFORMANCE EVALUATION OF FIELD AND GENETIC FOR SOME SIXTH RADIO GENERATION MUTANTS IN TOMATO
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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 " Abu Ghraib" during the growing seasons 2013-2014 to Evaluate the Vegetative growth , yield traits and genetic parameter of some tomato mutants. Results showed significantly increased of plant height in M6-2 mutant 245cm in Comparison with M6- 3 130 cm . M6-4 mutant significantly increasing of floral clusters 13 . Mutant M6-3 showed significantly increasing the average of, fruit weight 125.9g and plant yield 7.17 kg.plant-1 as comparison with M6-2 which showed decreasing of average of fruit weight and plant yield 79.40g and 4.38 kg.plant-1 respectively. Also results showed the highest Genetic variat

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Publication Date
Sun Feb 26 2023
Journal Name
Biomedicine
Polymorphism in SNP rs972283 of the KLF14 gene and genetic disposition to peptic ulcer
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Introduction and Aim: Kruppel Like Factor 14 (KLF14) gene plays an important role in metabolic illnesses and is also involved in the regulation of many other biological processes. This study's objective was to determine whether or not the KLF14 single-nucleotide-polymorphism (SNP) known as rs972283 was linked to an increased risk of peptic ulcer disease in the population that was being investigated.   Materials and Methods: Participants in this study included 71 people who had been diagnosed with peptic ulcers and 50 people who were considered to be healthy controls. In order to genotype the KLF14 SNP rs972283, an amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) was carried out, and the PCR results were

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Publication Date
Tue Apr 18 2023
Journal Name
Bmc Plant Biology
Unravelling the genetic diversity and population structure of common walnut in the Iranian Plateau
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Abstract<sec> <title>Background

Common walnut (Juglans regia L.) has a long cultivation history, given its highly valuable wood and rich nutritious nuts. The Iranian Plateau has been considered as one of the last glaciation refugia and a centre of origin and domestication for the common walnut. However, a prerequisite to conserve or utilize the genetic resources of J. regia in the plateau is a comprehensive evaluation of the genetic diversity that is conspicuously lacking. In this regard, we used 31 polymorphic simple sequence repeat (SSR) markers to delineate the genetic variation and population stru

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