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: Toll-like receptors (TLRs) play a significant role in the activation of adaptive immunity and may have an essential role in the development of rheumatoid arthritis (RA). Objectives: To assess the gene expression of TLR4 in individuals with RA compared to healthy individuals. Methods: From July to December 2022. A total of 100 individuals were encompassed in the study, consisting of 50 individuals diagnosed with RA, of whom 42 were females and 8 were males, with an average age of 45.22 years. Additionally, there were 50 healthy control participants, 40 of whom were females and 10 were males, with an average age of 45.64 years. To assess the TLR4 transcript levels, blood samples were collected from each participant, and RN
... Show MoreBackground: Inflammatory bowel disease (IBD) is a collection of chronic, recurrent inflammatory illnesses of the gastrointestinal system, including Crohn's disease (CD). Infliximab is one of the biological medications used to treat CD. Therapeutic drug monitoring has evolved as a treatment in IBD, aiming to optimize benefit while meeting more demanding, objective end criteria. Objective: To determine the achievement of target trough level (TL), develop anti-drug antibodies (ADAs) to infliximab, assess response to therapy, and study TL relations with different variables. Methods: The present study was cross-sectional and conducted from May 2022 to November 2022. It included 40 CD patients allotted into 2 groups: group 1 patients ach
... Show MoreNon-alcoholic fatty liver disease (NAFLD) is one of chronic liver and defines by fat accumulation ≥5% in liver which can progresses to non-alcoholic steatohepatitis (NASH). NAFLD related to obesity as well as non obese individuals. Adiponectin is a cytokine secreted from adipose tissue involved NAFLD pathogenesis and liked with obesity. Irisin is a myokine, has a convenient effect against metabolic diseases such as obesity, disylipemia diabetes type 2 and reversed liver steatosis and may be related with NAFLD.
Vitamin D is one of the fat soluble vitamins and more precisely as a pro-hormone through its metabolite (1,25(OH)2 cholecalciferol) the major steroid hormone. After the skin exposure to the light, vitamin D un
... Show MoreNon-alcoholic fatty liver disease (NAFLD) is one of chronic liver and defines by fat accumulation ≥5% in liver which can progresses to non-alcoholic steatohepatitis (NASH). NAFLD related to obesity as well as non obese individuals. Adiponectin is a cytokine secreted from adipose tissue involved NAFLD pathogenesis and liked with obesity. Irisin is a myokine, has a convenient effect against metabolic diseases such as obesity, disylipemia diabetes type 2 and reversed liver steatosis and may be related with NAFLD. Vitamin D is one of the fat soluble vitamins and more precisely as a pro-hormone through its metabolite (1,25(OH)2 cholecalciferol) the major steroid hormone. After the skin exposure to the light, vitamin D undergoes to
... Show MoreBackground: periodontitis is a chronic inflammatory disease causing destruction of the tooth supporting structures, initiated by dental plaque and modified by environmental and genetic risk factors. Cyclooxygenase-2 (COX-2) enzyme is responsible for the production of prostaglandin E2, an important mediator in the chronic periodontitis (CP) pathogenesis. Polymorphisms in COX-2 gene have linked to CP in different populations. Aim: To study the association between Cyclooxygenase-2 single nucleotide polymorphism rs689466 (-1195A/G SNP) and chronic periodontitis in a sample of Iraqi population. Methods: One hundred Iraqi subjects divided into two groups: case group consisted of 70 CP patient (35 males and 35 females) with age range 30-55 year
... Show MoreBackground: Multiple sclerosis (MS) is a chronic neurodegenerative autoimmune disease mediated by autoreactive T cells against myelin-basic proteins. Cytokines are suggested to play a role in the etiopathogenesis of the disease. Among these cytokines is interleukin-2 (IL-2). Aim of the study: To investigate the association between IL2+166 G/T single nucleotide polymorphism (SNP: rs2069763) and MS in Iraqi patients. Serum level of IL-2 was also detected. Anti-rubella IgG antibody was further determined in the sera of patients. Patients and methods: Eighty MS patients (28 males and 52 females; age mean ± SD: 39.2 ± 16.1 years) and 80 healthy control matched patients for age (32.15 ± 16.13 years) and gender (28 males and 52 females) were en
... Show MoreInflammatory bowel disease includes both Crohn’s disease and ulcerative colitis, is a chronic, progressive relapsing disease of gastrointestinal tract that require long-term treatment or maintenance therapy. Taking patient’s beliefs about the prescribed medication in consideration had been shown to be an important factor that affects compliance of the patient in whom having positive beliefs is a prerequisite for better compliance. The aim of the current study was to investigate and assess beliefs about medicines among a sample of Iraqi patients with inflammatory bowel disease and to determine possible association between these beliefs and some patient-specific factors.
This study is a cross-sectional study carried out o
... Show MoreThis study included 50 blood samples collected from children with mean age 8-12 years. Thirty five blood samples were collected from children with Type 1 Diabetes Mellitus (T1D) with mean age 9.4±0.34 years, and 15 blood samples collected from healthy children as a control sample with mean age 10.9±0.38 years. Immunogenetic study was done on collected blood samples. Concentrations of IFN-γ were estimated from T1D patient and control samples by using Elisa instrument. The concentration of this interferon was 1.575 pg/ml in T1D patient sample in comparison with 0.921 pg/ml in control sample. Significant differences of this interferon concentration were found between T1D patient and control samples when Mann-Whitney U test was used
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