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.
A mathematical eco-epidemiological model consisting of harvested prey–predator system involving fear and disease in the prey population is formulated and studied. The prey population is supposed to be separated into two groups: susceptible and infected. The susceptible prey grows logistically, whereas the infected prey cannot reproduce and instead competes for the environment’s carrying capacity. Furthermore, the disease is transferred through contact from infected to susceptible individuals, and there is no inherited transmission. The existence, positivity, and boundedness of the model’s solution are discussed. The local stability analysis is carried out. The persistence requirements are established. The global behavior of th
... Show MoreObjective: This research aimed to study the relation between maximal bite force (MBF) and maximum mouth opening among 12-year-old school children. Methods: In this cross-sectional study, a total of 400 children aged 12 years (194 boys and 206 girls) were examined. The MBF for the right and left side, as well as the anterior region, were evaluated for all children. The MMO was measured using an electronic digital caliper. To analyze the data path analysis method was used. Results: Boys showed a higher MMO of 48.797 ± 6.500 than girls (46.710 ± 5.926 mm). The MMO increased with increasing MBF, with significant differences between females and males. Conclusion: The MMO was higher in boys than in girls. Gender plays a significant ro
... Show MoreAbstract Aim: Autism is a neurodevelopmental disorder which affects communication and social interaction of children. It is a heterogeneous disease with various clinical presentations. Some genes are involved in its pathogenesis. It has been suggested that environmental exposure to lead can increase the risk of autism. The aim of our study was to compare blood lead levels among autistic and non-autistic children. Material and Method: This retrospective study included 107 children (60 with autism and 47 without autism) referred from the different Iraqi provinces, in the years 2015, 2016 and 2017, to the poisoning consultation center in Baghdad. Data collection including age, gender, residence, referral source, family history and blood lead l
... Show MoreRheumatoid arthritis is a chronic systemic inflammatory disease. Inflammation leads to joint damage and increases the risk of cardiovascular diseases. Neutrophil lymphocyte ratio (NLR) is a measure of inflammation in many diseases. Therefore, we aimed to evaluate the usefulness of NLR to detect inflammation in RA, and its correlation to RA disease activity indices and some hematological parameters. A cross-sectional study involving 24 patients with active rheumatoid arthritis (RA) who are using MTX participated in this study. All patients were clinically evaluated using disease activity score of 28 joints (DAS28) and simplified disease activity index (SDAI), whereas functional disability was assessed by health assessment questionnaire di
... Show MoreBackground :Atherosclerosis is the most
frequent underlying cause of ischemic heart
disease and a major cause of death all over the
world. This study was carried out to analyze and
compare the angiographic findings in patients
with diabetes mellitus versus non diabetics with
coronary heart disease , and to correlate these
findings with some risk factors for coronary
heart disease.
Methods: A total of 100 patients were studied,
50 with diabetes mellitus, and 50 non diabetics.
This study was carried out at Al-Sadr teaching
hospital in Basrah, Southern Iraq during the
period April 2009- September 2009. All patients
were known to have coronary heart disease. Risk
factors for coronary heart disease
Background: Gastroesophageal reflux disease, is a quite prevalent gastrointestinal disease, among which gastric content (excluding the air) returns into the oral cavity. Many 0ral manifestations related t0 this disease include tooth wear, dental caries also changes in salivary flow rate and pH. This study was conducted among gastroesophageal reflux disease patients in order to assess tooth wear in relation to salivary flow rate and pH among these patients and the effect of gastroesophageal reflux disease duration on this relation. Materials and methods: One hundred patients participate in this cross-sectional study for both genders and having an age range of 20-40 years old, patients had been endoscopically identified as having gastroeso
... Show MoreSeventy of Klebsiella pneumoniae isolates had been collected from some Hospitals in Baghdad city from October to December 2017. The 70 isolates were taken from diverse clinical specimens. All K. pneumoniae isolates were identified based on API 20 E and Vitek2 compact system. Antibiotics sensitivity test was carried out toward 10 antibiotics using discs diffusion method. The level of antibiotics resistance was 81.42% for Ceftriaxone, whereas the low level of antibiotics resistance was 37.14% for Piperacillin. K. pneumoniae isolates were typed genotypically by using two different methods of amplification, multiplex-PCR and enterobacterial repetitive intergenic consensus (ERIC)-PCR typing methods. Results showed that out of 70 isolates, there
... Show MoreIntroduction and Aim: Pseudomonas aeruginosa is a nosocomial infection with an ability to develop high levels of antibiotic resistance. The efflux pump system is one of the mechanisms that is linked to multidrug resistance in P. aeruginosa. In this study, we employed siRNA loaded on gold nanoparticles against the MexA efflux pump gene to decrease the MexA gene expression in P. aeruginosa and estimated antibiotic resistance after gene silencing. Materials and Methods: This study examined four strains of P. aeruginosa isolated from patients in various hospitals in Baghdad. Bacteria isolated were identified by biochemical tests and Vitek compact 2 system. Single-stranded siRNA (33bp) designed in this study was loaded onto gold
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