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: Saliva plays an important role in oral health. Several salivary proteins are involved in the antimicrobial defence mechanism and are able to eliminate or inhibit bacterial growth in the oral cavity. Secretory IgA (SIgA) is one of the principal antibodies present in saliva, could help oral immunity by preventing microbial adherence, neutralizing enzymes and toxins. The aim of this study was to investigate the relationship between salivary Streptococcus Mutans (SM) count and S IgA in stimulated whole saliva in children with primary dentition compared to those with permanent teeth in relation to some oral hygiene parameters. Material and methods: Stimulated whole saliva was collected from 50 children (25 with primary dentation and
... Show MoreCeliac disease (CD) is an inflammatory small intestinal disorder that can lead to severe villous atrophy, and malabsorption . Since the measurement of α-amylase activity is the most widely used biochemical test for the diagnosis of pancreatic and non pancreatic disease , therefore serum α-amylase were studied in the present study in an attempt to evaluate the usefulness of this enzyme in the diagnosis of celiac disease and its relationship with anti gliadin IgA and IgG and serum glucose . Thirty one patients with celiac disease were studied and compared with twenty four healthy individuals . Significant elevation of α-amylase activity , glucose and anti gliadin IgA and IgG were observed in the sera of patients with celiac diseas
... Show MoreTo determine the important pathogenic role of celiac disease in triggering several autoimmune disease, thirty patients with Multiple Sclerosis of ages (22-55) years have been investigated and compared with 25 healthy individuals. All the studied groups were carried out to measure anti-tissue transglutaminase antibodies IgA IgG by ELISA test, anti-reticulin antibodies IgA and IgG, and anti-endomysial antibodies IgA and IgG by IFAT. There was a significant elevation in the concentration of anti-tissue transglutaminase antibodies IgA and IgG compared to control groups (P≤0.05), there was 4(13.33%) positive results for anti-reticulin antibodies IgA and IgG , 3(10%) positive results for anti-endomysial antibodies IgA and IgG . There were 4 pos
... Show MoreTo determine the important pathogenic role of celiac disease in triggering several autoimmune disease, thirty patients with Multiple Sclerosis of ages (22-55) years have been investigated and compared with 25 healthy individuals. All the studied groups were carried out to measure anti-tissue transglutaminase antibodies IgA IgG by ELISA test, anti-reticulin antibodies IgA and IgG, and anti-endomysial antibodies IgA and IgG by IFAT. There was a significant elevation in the concentration of anti-tissue transglutaminase antibodies IgA and IgG compared to control groups (P≤0.05), there was 4(13.33%) positive results for anti-reticulin antibodies IgA and IgG , 3(10%) positive results for anti-endomysial antibodies IgA and IgG . There were 4 pos
... Show MoreA survey statistician for cholera in Iraq for 1980 and until 2003 show that cholera is endemic in Iraq and that the highest number of casualties recorded in the years 1998-1999 and increasing spread of the disease during the wars in hot climates, wet a study bacteriological used where circles selective and tests Alkouhaoah examinations serological system
Polycystic ovary syndrome (PCOS) referring to a syndrome that is recognized as a life-course disease and has both metabolic and reproductive signs; main pathophysiological cause includes insulin resistance, hyperandrogenism, and oxidative stress state. The study aimed to assess the impact of combining Myoinositol and Metformin, the main insulin-sensitizing drugs, on improving clinical, metabolic, and hormonal parameters in females with PCOS. A clinical trial that was prospective, randomized, and comparative on 54 patients (aged 18-40 y) are divided into three groups: group1 patients allocated to receive Myo-inositol(4g), group2 patients assigned to receive Metformin(1g) and group3 patients assigned to receive Myo-inositol(4g) + Metformin
... Show MorePseudomonas aeruginosa is the most common opportunistic pathogen causing morbidity and mortality in hospitalized patients due to its multiple resistance mechanisms. Therefore, as a therapeutic option becomes restricted, the search for a new agent is a preference. So P. aeruginosa is an extremely versatile Gram-negative bacterium capable of thriving in a broad spectrum of environments, and this performs main problems to workers in the field of health. One hundred and fifty samples were collected from different sources from Baghdad hospitals, divided into two main groups: clinical (100) specimens and (50) samples as an environmental, collected from October 2019 to the March 2020. All of these samples were cultured by specific and differential
... Show MorePseudomonas aeruginosa is emerging opportunistic clinical pathogens. Clinical isolates of P. aeruginosaresist wide spectrum of antibiotics and form biofilm. The comparison study between clinical and environmental of P. aeruginosa in terms of biofilm formation and antibiotic resistance is very scanty. Thus, in current study microtiter plate technique was used to measure the biofilm formation by several clinical and environmental isolates. Moreover, the antibiotic susceptibility of these bacteria was evaluated by VITIK 2 techniques. The relationship between the antibiotic susceptibility and biofilm formation was evaluated for clinical and environmental isolates. Clinical and environm
... Show MoreThe isolates of Staphylococcus aureus were isolated from patients with various infections in hospitals, the isolates were identified and accurately diagnosed by phenotypic examination and biochemical tests, as well Vitek-2, and then genetic detection and diagnosis of many of the pathogenic factors associated with Staphylococcus aureus using conventional polymerase chain reaction (PCR) and testing for association by antibiotic resistance and production of some toxins by Staphylococcus aureus. After performing analysis of statistical, it was set up that the correlation coefficient of the PCR technique using virulence genes, sensitivity test to antibiotics and other virulence factors were significant at p < 0.05, but was insignificant with the
... Show MoreObjective: The purpose of this study was to determine the association between caries related microorganisms in children’s saliva, such as Streptococcus mutans and lactobacilli, and their demographic factors. Methods: This study involved a sample of 135, both sexes with an age range between 3 and 10 years. Unstimulated saliva was obtained and diluted in normal saline. Saliva was then placed in selective media. Salivaris agar was used for mutans streptococci while Rogosa agar for lactobacilli. After incubation, Streptococcus mutans counting of CFU (colony forming units) with morphology characterization and numbers of CFU per milliliter of saliva for lactobacilli. Demographic factors information was collected using a questionnaire.
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