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.
Background: Consanguineous marriage is a relationship between biologically related individuals. Genetic factors have a role in gene environment interactions that takes the center stage. The evidence of oral disease (gingivitis and periodontitis) may depend on genetic syndromes, inherited diseases, familial studies etc. The present study aims at assessing dental plaque and gingival health condition in children of inbreeding parents compared with children of outbreeding parents among primary schools in Al-Qasem city/ Babylon governorate in Iraq. Materials and methods: this comparative study included three hundred ninety eight (398) students, 6-12 years old, from 4 primary schools; 199 children had their parents of inbreeding marriage with
... Show MoreBackground: 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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This study aims to identify the most important legislatures and legal frameworks pertaining to advertisement for children. It focuses on the western approach, which is characterized by the variety of its perspectives in presenting issues and in identifying problems. However, if studies show that there is a certain awareness about the advertisement impact on children, it is obvious that most of legislatures reject the laws restricting the broadcast advertising spots intended for children under 12 years of age, with the exception of the Swedish and the Canadian province of Quebec experiences, which opted for total ban on advertising spots broadcast messages targeting children. |
Objective: The incidence of infectious diseases among hospitalized children remains high. This study describes the environmental health indicator diseases and differences between gender and age of the affected children. Patients & Methods: A review of hospitalization and death causes among children admitted to the Child Teaching Hospital for Pediatrics in Baghdad, Iraq was performed. Medical records of children admitted throughout three years period were collected for demographics data and statistical analysis using Chi-square test. Results: A total of 4,272 admissions and 309 deaths were recorded. Infectious diseases remain the primary cause of hospitalization among children and frequently lead to death; which recorded (56%) followed by ac
... Show MoreIn the last few years, the Internet of Things (IoT) is gaining remarkable attention in both academic and industrial worlds. The main goal of the IoT is laying on describing everyday objects with different capabilities in an interconnected fashion to the Internet to share resources and to carry out the assigned tasks. Most of the IoT objects are heterogeneous in terms of the amount of energy, processing ability, memory storage, etc. However, one of the most important challenges facing the IoT networks is the energy-efficient task allocation. An efficient task allocation protocol in the IoT network should ensure the fair and efficient distribution of resources for all objects to collaborate dynamically with limited energy. The canonic
... Show MoreBackground: Alopecia areata(AA) is a common autoimmune disease that causes hair loss without scarring. It occurs as a result of T-helper 1 (Th1) and Th17 cells attacking the anagen hair follicles. Genetic factors play a role in the occurrence of infection, which stimulates the production of pro and anti-inflammatory interleukins. Polymorphisms of IL-37 play a role in autoimmune diseases. However, IL37 single nucleotide polymorphisms(SNP) have not been identified in patients with AA. Therefore, this study aimed to reveal the IL37 gene SNP and its relationship to AA. Methods: Genotyping of IL-37 gene single nucleotide polymorphisms SNPs were detected using sequence-specific primer-polymerase chain reaction (SSP-PCR) method was done following
... Show MoreObjective 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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