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.
Abstract The results of isolation, morphological and microscopic diagnosis, Chromic Agar, Vitik technology and Bact Alert showed that the diagnosis of fungi isolated from blood samples of end-stage renal patients who did not undergo dialysis and those who underwent dialysis was 60 samples for each type. The total number of fungal isolates isolated from people who did not undergo dialysis was 26 pathogenic fungal isolates, with a percentage frequency of 43.33%. In this study, 4 genera of pathogenic fungi were identified: Candida spp, Rhodotorula spp, Cryptococcus spp. and Aspergillus spp. The number of Candida isolates reached 13 isolates, with a frequency of 50%. The results also showed that the diagnosed species from the genus Rhodotorula
... Show MoreBackground: Monocyte chemotactic protein-1 (MCP-1) is a chemokine expressed by inflammatory and endothelial cells. It has a crucial role in initiating, regulating, and mobilizing monocytes to active sites of periodontal inflammation. Its expression is also elevated in response to pro-inflammatory stimuli and tissue injury, both of which are linked to atherosclerotic lesions. Aim of the study: To determine the serum level of MCP-1 in patients with periodontitis and atherosclerotic cardiovascular disease in comparison to healthy control and evaluate the biomarker's correlations with periodontal parameters. methods: This study enrolled 88 subjects, both males and females, ranging in age from 36-66 years old, and divided into four groups: 1<
... Show MoreThe aim of this study is to investigate the role of prodigiosin on P. aeruginosa' s biofilm genes involved in the pathogenicity and persistency of the bacteria; Materials and methods: Gram negative bacterial isolates were taken from burn and wounds specimen obtained from some of Baghdad hospitals. Forty six isolates were identified as Pseudomonas aeruginosa and four isolates as Serratia marcescens by using biochemical tests and VITEK 2 compact system. Susceptibility test was performed for all P. aeruginosa isolates, the results showed that 100% were resistant to Amikacin and 98% were sensitive to Meropenem. Resistant isolates were tested for biofilm formation; the strong and moderate isolates (17) were detected by PCR for AlgD gene
... Show MorePvcABCD are cluster of genes found in Pseudomonas aeruginosa. The research was designed to examine the relationship between the pvc genes expression and cupB gene, which plays a crucial role in the development of biofilm, and rhlR, which regulates the expression of biofilm-related genes, and to investigate whether the pvc genes form one or two operons. The aims were achieved by employing qRT-PCR technique to measure the gene expression of genes of interest. It was found that out of 25 clinical isolates, 21 isolates were qualified as P.aeruginosa. Amongst, 18(85.7%) were evaluated as biofilm producers, 10 (47.6%), 5 (23.8%), and 3 (14.2%) were evaluated as strong, moderate and weak producers respectively, while, 3 (14.2%) were considered
... Show MoreBackground: Tobacco smoking and tuberculosis (TB) are two major public health problems; Associations between smoking and tuberculosis including death from tuberculosis have been reported , A reduction in smoking could be expected to have a significant impact on TB incidence and prevalence .
Objectives: to assess the effect of smoking on tuberculosis.
Methods: This study was conducted from June 2011 to June 2012 in 200 patients, adult ( aged 17 years and more), newly diagnosed patients of pulmonary tuberculosis, at the chest and Respiratory Disease Specialized Center in Baghdad. Demographic data, presenting symptoms, data on smoking, and recurrence of disease were compared. Information on smoking status, tobacco smoking was collecte
In Present study, 25 clinical isolates of Proteus spp. of clinical samples, urine, wounds and burns collected from different hospitals in Baghdad city, all isolates were identified as Proteus mirabilis using different bacteriological media, biochemical assays and Vitek-2 system. It was found that 15 (60%) isolates were identifying as P. mirabilis. The susceptibility of P. mirabilis isolates to cefotaxime was 66.6 %, while to ceftazidime was 20%. Extended spectrum β-lactamses producing Proteus was 30.7 %. DNA of 5 isolates of P. mirabilis was extracted and detection for blaVEB-1 gene by using multiplex polymerase chain reaction (PCR). Results showed that the presence of this gene in all tested isolates, as an important indicator for increas
... Show MoreBackground: Periodontal diseases are one of the major dental pathologies that affect human populations worldwide at high prevalence rates The term periodontal disease usually refers only to plaque related inflammatory disease of the dental supporting tissues. Mouth rinses which act as an anti-plaque agents mostly used as adjuncts to oral hygiene. Aims of the study: To Estimate and compare the effects of Aloe vera relative to chlorhexidine on the clinical periodontal parameters (plaque index, gingival index, bleeding on probing). Material and method: A total of 44 subjects with plaque-induced gingivitis, baseline of data were collected for (PLI, GI, and BOP) and underwent oral hygiene instruction, scaling and polishing, then divided into:
... Show MoreCalcifying epithelial odontogenic tumour (CEOT) is a benign odontogenic neoplasm of epithelial origin that secretes an amyloid‐like protein tending towards calcification. This study aims to describe a case series from Iraq of one of the rarest odontogenic tumours.
Clinical and histopathological analysis of Calcifying epithelial odontogenic tumour cases that are archived at the oral pathology laboratory of the college of dentistry (Baghdad University) from 2000 to 2019.
Six cases of CEOT were regi