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.
The number of infections caused by microorganisms is increasing significantly over the last few years. A total of 140 patients admitted to the central teaching hospital of pediatrics from the 1st of Jun 2017 to 31 October 2017. The Clinical samples was processed from culture and sensitivity testing. Antibiotic discs used for gram negative isolates. The most prevalent gram negative isolates included Escherichia coli 63 (45.0 %), Pseudomonas spp. 21 (15.0 %), Klebsiella spp. 19 (13.6 %) predominantly. Escherichia coli were the most prevalent isolates from urine 45 (71.4 %), Klebsiella spp. 11 (57.9 %) and Enterobacter spp. 11 (68.8 %) followed by Escherichia coli 10 (15.9 %) predominant from blood. 68 (48.6 %) of specimens were urine, 47 (33.
... Show MoreUropathogenic Escherichia coli is the main cause of urinary tract infections, the ability of this bacteria to cause urinary tract infections is related to a variety of virulence factors that enhance colonization and evade the immune response, one of these virulence factors is cytotoxic necrotizing factor 1 toxin which converts the glutamine residue to glutamic acid to activated GTPase Rho family. The study was meant to find out the prevalence rate of the cnf1 gene in Uropathogenic Escherichia coli isolated from Iraqi patients. Conventional laboratory methods were used for primary bacterial identification and molecular methods were used to confirm bacterial identity and gene detection. Escherichia coli was identified in 89/165 (53.93%) of th
... Show MoreBackground: Adenoiditis is a common cause of otitis media with effusion (OME) in children & perhaps OME is one of the most common diseases leads to hearing impairment in children with subsequent impairment of speech development & learning difficulties , however, treatment remains controversial. Objectives: To evaluate if there is a significant advantage of tympanostomy tube insertion in association with adenoidectomy over adenoidectomy in association with myringotomy alone in treatment of children with OMEType of the study: This is a prospective study. Patients & methods: The study consisted from 63 children diagnosed as cases of bilateral OME & variable degrees of adenoid hypertrophy. The patients were divided randomly i
... Show MoreThis study was designed to determine the percentage and the main causative agent causing bacteremia among children aged up to 12 years and complaining from different types of infections (Respiratory, intestinal, and urinary tract infection) in Baghdad. Results showed that the percentage of infection was 46.19 % the main causative agents were Enterobacteriaceae including (E.coli , Pseudomonas , Salmonella.typhi .Serratia , Enterobacter , Klebsiella )and other than Enterobacteriaceae which includes(Staph.aureus , Staph.epidermidis , Streptococcus.Pneumonia and ?-hemolytic streptococci ) .Regarding the age factor ,results showed that the highest infection rate was among the age group (1 day-12 month ) and (12 -36month ) (64.89%)an
... Show MoreBackground: During Annual statistical report published by the Iraqi ministry of health the year 2004 showed that mortality rate was 0.15 per 1000 of diarrheal episodes among children under five years.Objectives: To study the occurrence of Shigellosis and Entamoeba histolytica in a sample of children from certain hospitals in Baghdad and determine its relation to some demographic factors.Methods: This cross sectional study was carried out in Baghdad city involving 400 children with bloody diarrhea under five years of age attending four hospitals, 130 cases from Central Pediatric Hospital, 110 cases from Al Mansoor Pediatric Hospital, 90 cases from Al Kadhimya Teaching Hospital and 70 cases from Mohammed Baaqir Al Hakeem Hospital for the p
... Show MoreFilled the place thought philosophers and ancient is the identity that you know The value of belonging to a World Geography existential - the spiritual , and Which is characterized by the structure humanity from one another and the Rest of the organisms they interact with him alone by environmental Conditions - surrounding has to achieve time through continuous movement Localized or comprehensive . The place is exemplified by making special Natural Great Creator, I believe making structure humanity combined - Individual interactive because of its influential role in all daily consumer Productions and creative arts, specifically drama's TV , because the place in Aesthetic discourse - TV drama directly affect the creating and building the
... Show MoreThis study was conducted in Baghdad, Iraq from December 2021 to May 2022. The goal was to determine the effect of Toxoplasma gondii on liver function by examining the relationship between Toxoplasma infection and hormones. One hundred and twenty male patients with Chronic liver disease (CLD) (age:14-75 years) and 120 control males (age: 24-70 years) participated in this study. Serum samples were taken from all individuals and were then analysed for anti-Toxoplasma antibodies. Hormonal tests were conducted for all participants which included (Cortisol, testosterone, prolactin, insulin, and thyroid-stimulating hormone TSH). Biochemical tests included (Prothrombin time PT, international normalized ratio INR and albumin); liver enzymes
... Show MoreThe research aims to
1 – The discloser of the level of moral values in the children of kindergarten.
2 - Building an educational program designed to develop moral values on the children of kindergarten.
3 - Knowing the impact of the program in the development of moral values in children
Purposive sample was selected consisted of 40 children and a child aged 5-6 years and to achieve objectives of the research promising measure of the moral values kindergarten has been applied to the children of the two groups was based on pre and post test