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.
Researchers have recently increased their focus on the link between autoimmune diseases and infections. Most of the recent research indicates that silent human cytomegalovirus (HCMV), may have diverse roles in the initiation, development, and exacerbation of autoimmune diseases, such as coeliac Disease (CD) and inflammatory bowel disease. The aim of this study is to evaluate the role of HCMV infection in Iraqi patients with CD. Serum samples were obtained from 60 patients with CD, and from 60 healthy subjects. Enzyme-linked immunosorbent assay was used to determine the Anti-Transglutaminase IgG/IgA, Anti-gliadin IgA/ IgG, as well as the HCMV IgM/ IgG levels in the serum samples. Significantly higher percentage of positivity for seru
... Show MoreThe logistic regression model is one of the oldest and most common of the regression models, and it is known as one of the statistical methods used to describe and estimate the relationship between a dependent random variable and explanatory random variables. Several methods are used to estimate this model, including the bootstrap method, which is one of the estimation methods that depend on the principle of sampling with return, and is represented by a sample reshaping that includes (n) of the elements drawn by randomly returning from (N) from the original data, It is a computational method used to determine the measure of accuracy to estimate the statistics, and for this reason, this method was used to find more accurate estimates. The ma
... Show MoreThe haplotype association analysis has been proposed to capture the collective behavior of sets of variants by testing the association of each set instead of individual variants with the disease.Such an analysis typically involves a list of unphased multiple-locus genotypes with potentially sparse frequencies in cases and controls.It starts with inferring haplotypes from genotypes followed by a haplotype co-classification and marginal screening for disease-associated haplotypes.Unfortunately,phasing uncertainty may have a strong effects on the haplotype co-classification and therefore on the accuracy of predicting risk haplotypes.Here,to address the issue,we propose an alternative approach:In Stage 1,we select potential risk genotypes inste
... Show MoreBackground: The normal decline in systolic blood pressure during recovery phase of treadmill exercise dose not occur in most patients with coronary artery disease, in others recovery values systolic blood pressure may even exceed the peak exercise value. Objectives: Treadmill exercise test parameters indicating the presence and extent of coronary artery disease have traditionally included such as exercise duration, blood pressure and ST-segment response to exercise. The three –minute systolic blood pressure ratio is another important indicator of presence and significance of coronary artery disease is useful and obtainable measure that can be applied in all patients who are undergoing stress testing for evaluation of suspected is
... Show MoreT-cell activation and alteration of cytokine levels are involved in the pathogenesis of asthma. However, the profile of circulating T-lymphocyte subsets and related cytokines during asthmatic attacks is still unclear. We compared the serum concentrations of proinflammatory cytokines Interleukine-18( IL-18) and Interleukine-12(IL-12), T-helper 2 (Th2) cytokine Interleukine-13(IL-13 ) and Immunoglobuline-E ( IgE) in 27 asthmatic children and 21 sex and age matched healthy control subjects. Serum cytokines and IgE concentrations were measured by enzyme-linked immunosorbent assay. Serum IL-13 , IL-18 and IgE concentrations were significantly higher in asthmatic patients than normal control subjects ( IL-13: median 9.73 versus 4.43 pg/ml, P&l
... Show MoreKE Sharquie, AA Noaimi, MN Almallah, Journal of Cosmetics, Dermatological Sciences and Applications, 2014 - Cited by 2
Microsporum canis is considered one of the filamentous fungi that cause surface fungal contagion in the humans and animals. The present study aimed to diagnose M. canis via the molecular method and differentiating its local Iraqi isolates from global isolates. Microscopic examination showed 55 specimens with M. canis from 130 specimens collected from children aged between 4-10 years suspected of dermatophytes who attended Medical City Laboratories and Baghdad Hospital in Baghdad city from 1/12/2022 to 1/3/2023. The results showed that the frequency of M. canis infections was 55/130 (42.31%). The results demonstrated significant differences in the animals' contact (p <0.0001), lesions (0.03) and habitation area (p =0.002). Whilst
... Show MoreVariation in DNA, and genes to a lesser or greater extent, can play an important role in most diseases; that is because this variation in will reflect and affect the function of DNA, and genes (combined genes and DNA or separately). This can be affected by environment, life style, as well as the inheriting from parents and previous generations. All these factors can contribute in human diseases. There are different alterations in genes, like imbalance and inequality in chromosomes, disorder in gene (deficiency in gene, which could be complex or single disorder), and cancer. In the last decades, scientists were focus on medicine and genetics; they pay an extensive attention to reach better understanding about diseases and their cause
... Show MoreBackground Parkinson’s disease (PD) is a common neurodegenerative disease that is linked to several motor and nonmotor symptoms, including sleep disturbances. Patient quality of life has been shown to be disproportionally impacted by disease. Objectives To investigate sleep quality among individuals with PD, and to assess the severity of sleep disturbances and their impact on daytime activities. Subjects and methods A case‒control with 44 patients with Parkinson’s disease and 80 apparently healthy control participants was recruited from several hospitals and clinics. Each participant provided a thorough medical history and underwent a physical examination, and a questionnaire comprising the standard PSQI was used to assess sleep qua
... Show MoreInflammation of the tonsils could be described as acute tonsillitis, mainly due to infection. Recurrent tonsillitis could be defined as 3-7 episodes during the first 3 years of age. Vitamin D, which is a neuro-hormone with pleiotropic biological activities may modulate the immune response by alleviation, and stimulation of Th1 and Th2 cell proliferation, respectively, that influence the stimulation, synthesis, and secretion of both pro and anti-inflammatory cytokines. In this study we aimed to shed light on the levels of vitamin D in children with different episodes of tonsillitis in association with levels of interleukins (TNFα, IL-2, IL-4, IL-10). Blood samples were collected from 48 participants in 3 groups: control, acute tonsilliti
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