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.
ackground An autoimmune and inflammatory illness called rheumatoid arthritis (RA) occurs when your immune system mistakenly attacks normal cells in your body. Interleukin-35 is a brand-new cytokine that belongs to the immunosuppressive and anti-inflammatory IL-12 family. β -herpesvirus that produces inflammation and stays dormant in its host for life is the human cytomegalovirus. Human herpesvirus (HCMV) has been at the core of several RA-related theories. Objective The current study looked at the association between RA and serum IL-35 levels as well as the association between RA and CMV. Patients and methods Blood samples were taken in the Baghdad Teaching Hospital and Typical Rheumatology Unit from January 2022 to Mars 2022 for the curre
... Show MoreBackground: Rheumatoid arthritis is a chronic inflammatory autoimmune disease characterized by joint inflammation, involvement of exocrine salivary and lacrimal glands may occur as extra-articular mani¬festations in this disease. This study aimed to provide evidence of altered in function and composition of salivary gland in patients with rheumatoid arthritis by determine salivary flow rate and some biochemical parameters(total protein, amylase, peroxidase) and to investigate the relationship between disease activity and changes in function and composition of salivary gland. Materials and Methods: Fifty five patients with RA (7 males and 48 females) were enrolled in this study with age range (20-69) years. The patients were separated int
... 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.
... Show MoreObjective The aim of this study was to assess whether serum cytokine levels correlate with clinical periodontal parameters in health or disease.
Materials and Methods Male subjects (40–60 years) with CP (n = 30), CP + CHD (n = 30), and healthy controls (n = 20) had plaque index (PLI), gingival index (GI), bleeding on probing, probing pocket depth (PPD), and clinical attachment level (CAL) evaluated. Serum IL-1β and IL-6 levels were quantified using enzyme-linked immunosorbent assay.
Results PLI, GI, PPD, and CAL were significantly higher in patients with CP + CHD compared to those with CP. Serum levels of IL-1β and IL-6 were also si
A model using the artificial neural networks and genetic algorithm technique is developed for obtaining optimum dimensions of the foundation length and protections of small hydraulic structures. The procedure involves optimizing an objective function comprising a weighted summation of the state variables. The decision variables considered in the optimization are the upstream and downstream cutoffs lengths and their angles of inclination, the foundation length, and the length of the downstream soil protection. These were obtained for a given maximum difference in head, depth of impervious layer and degree of anisotropy. The optimization carried out is subjected to constraints that ensure a safe structure aga
... 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 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
To 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
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