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.
W Tarik A, AW Ali T, Journal of the Faculty of Medicine, 2015 - Cited by 2
Background: 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
... Show MoreBackground: Day case surgery has become widely accepted as a safe alternative to the inpatient care in up to 70% of the cases at a children’s hospital. It has the advantage of minimizing the psychological trauma of hospitalization, decreasing nosocomial infection, less costly and frees up hospital beds.Objectives: To assess the advantages and disadvantages of this type of surgery.Methods: this is a prospective study, in which two hundred thirty childhood tonsillectomies were performed as a day-case in the department of otolaryngology at Al Shaheed Gazi hospital, Medical City Complex during the period from October 2009 to September 2010. The patients age range from 3-12 years (Mean 7.2 years).Results: 46.08% males and 53.91% females wer
... Show MoreBackground: 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 MoreMany international studies indicated that the polymorphisms of some genes disturbed the folate homocysteine (Hcy) metabolism and increased the vulnerability to Down syndrome (DS). We aimed to measure the serum levels of folate and Hcy in DS children and compare the levels with age and sex-matched apparently normal healthy children. We also aimed to study the A80G polymorphism of the gene reduced folate carrier (RFC1) in the DS children as a risk factor. Forty children with DS (24 were boys, and 16 were girls) with the age range between 5-13 years, and 26 normal healthy children (16 boys and ten girls) were included in this study. The results show that the highest genotype in the control group was AG (53.85%) followed by AA and GG (30.
... Show MoreThe chronic renal disease is a principle common medical dilemma in Iraq. Peripheral arterial disease (PAD) is a prevalent infirmity in the hemodialysis people. The aim of present study was to estimate the prevalence of PAD in subjects with end-stage renal disease (ESRD). This cross-sectional study was done between January 2016 and May 2017 on ESRD subjects regularly attending renal dialysis unit in Al-Kindy teaching hospital in Baghdad, Iraq. PAD was diagnosed on the base of the ankle-brachial index (ABI) measured by using a hand-held Doppler ultrasound. Subjects with ABI ≤0.9 were supposed positive for PAD. A total of 150 ESRD cases were analyzed. The mean age of the subject was 49.52±15 years. Majority of them were males 87(58%). Most
... Show MoreThe 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
Non-alcoholic fatty liver disease (NAFLD), characterized by hepatic fat accumulation in individuals consuming little or no alcohol, has become highly prevalent globally. Oxidative stress plays a central role in instigating inflammation and cell death pathways driving NAFLD progression. This case–control study aimed to elucidate the association between circulating levels of the pivotal non-enzymatic antioxidants – coenzyme Q10 and vitamins E and C – and liver injury parameters among 60 Iraqi NAFLD patients versus 30 healthy controls. NAFLD diagnosis entailed over 5% hepatic steatosis on ultrasound excluding other etiologies. Patients spanned three age groups: 20–29, 30–39, an
KE Sharquie, AA Noaimi, HG Mahmood, SM Al-Ogaily, Journal of Cosmetics, Dermatological Sciences and Applications, 2015 - Cited by 6