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.
Objective 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
As many expensive and invasive procedures are used for the diagnosis or follow-up of clinical conditions, the measurement of cell-free DNA is a promising, noninvasive method, which considers using blood, follicular fluid, or seminal fluid. This method is used to determine chromosomal abnormalities, genetic disorders, and indicators of some diseases such as polycystic ovary syndrome, pre-eclampsia, and some malignancies. Cell-free DNA, which are DNA fragments outside the nucleus, originates from an apoptotic process. However, to be used as a marker for the previously mentioned diseases is still under investigation. We discuss some aspects of using cell-free DNA measurements as an indicator or marker for pathological conditions.
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
... 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
Celiac 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 MoreBiological drugs have an active substance that is made by a living organism or derived from a living organism. They are one of the important therapy options used in a wide range of diseases especially life-threatening diseases. Biological therapy opens new opportunities for treating different diseases for which drug therapy is minimal, but they have considerable differences in the safety consequences in comparison with non-biological drugs. The aim of the current study was to assess the post-marketing safety profile of biological drugs used in Iraqi hospitals by the analysis of the reported adverse drug reactions regarding their severity, seriousness, preventability, expectedness, and outcome. It is a retrospective study of the individu
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